DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 26 July 2021

Case Based Review

Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Case Report

Rahmani, Nasim; Talebi, Saeed; Hooman, Nakysa; Karamzade, Arezou: Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19

Original Article

Panigrahi, Inusha; Bhatt, Yogita; Malik, Shivani; Kaur, Parminder; Kaur, Anupriya: Clinical Profile of Indian Children with Down Syndrome

Publication Date: 22 July 2021

Original Article

Ramos-Mejía, Rosario; Monterroza-Quintana, Francisco; Primomo, Claudio; Goyeneche, Rodolfo; Fano, Virginia: Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital

Publication Date: 19 July 2021

Case Based Review

Sturgis, Morgan R.; Wrobel, Kathryn E.; Bosco, Gianna N.; Jones, Carolyn H.: Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Publication Date: 10 July 2021

Review Article

Falsaperla, Raffaele; Giacchi, Valentina; Aguglia, Maria Giovanna; Mailo, Janette; Longo, Maria Grazia; Natacci, Federica; Ruggieri, Martino: Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

Publication Date: 07 July 2021

Original Article

Goyal, Manisha; Gupta, Ashok; Bhandari, Anu; Faruq, Mohammed: Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India

Publication Date: 03 July 2021

Case Based Review

Singanamalla, Bhanudeep; Kesavan, Shivan; Aggarwal, Divya; Chatterjee, Debajyoti; Urtizberea, Andoni; Suthar, Renu: Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

Review Article

Malhotra, Sonali; Sivasubramanian, Ramya; Srivastava, Gitanjali: Evaluation and Management of Early Onset Genetic Obesity in Childhood

Publication Date: 26 June 2021

Case-Based Review

Xia, Changqing; Kumar, Dibyendu; You, Bei; Streck, Deanna L.; Osborne, Lisa; Dermody, James; Jiang, Jie-Gen; Pletcher, Beth A.: Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

Publication Date: 22 June 2021

Original Article

Gowda, Vykuntaraju K.; Battina, Manojna; Vegda, Hemadri; Srinivasan, Varunvenkat M.; Chikara, Surendra K.; Mishra, Adrija; Shivappa, Sanjay K.; Benakappa, Naveen: Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India

Publication Date: 11 June 2021

Original Article

Elabd, Heba Salah Abdelkhalek; Bastaki, Fatma; Khalifa, Mohamed: Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population

Publication Date: 01 June 2021

Case-Based Review

Carvalho, Andreia; Costa, Carmen; Pinto, Miguel; Taipa, Ricardo; Gonçalves, Ana; Oliveira, Márcia E.; Ferreira, Sofia; Ribeiro, Joana Afonso: X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy

Case-Based Review

Kapoor, Ravi; Thakur, Seema; Kapoor, Aakar; Kapoor, Sunita; Kalra, Apurva; Kapoor, Aakriti: Neu–Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

Case-Based Review

Poon, Kok-Siong; Tan, Karen Mei-Ling; Zacharin, Margaret; Ho, Cindy Wei-Li: A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

Original Article

Salah, Nouran Y.; Ali, Heba G. A.; Bassiouny, Noha; Salem, Lamya; Taha, Sara I.; Youssef, Mariam K.; Annaka, Layla; Barakat, Noha M.: BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity

Publication Date: 14 April 2021

Case Based Review

Palma, Carmen; Patricia, Pérez Mohand; Lezana, José M.; Cruz, Jaime; Quesada, Juan F.; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M. Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta: A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

Case-Based Review

Cervera-Gaviria, Marivi; Enterría-Rosales, Julia; Juárez-Vignon-Whaley, Juan José; García-Sánchez, Julián; Treviño-Velasco, Rodrigo; Cervera-Gaviria, Jaime: Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Case-Based Review

Gunes, Sevinc Odabasi; Calisici, Erhan; Arslan, Mutluay; Akin, Onur; Karagol, Belma Saygili: Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Original Article

Heathfield, Laura Jane; Watkins, Hugh; Martin, Lorna Jean; Ramesar, Raj: Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town
Supplementary Material

Original Article

Murakami, Kohei; Kikugawa, Shingo; Seki, Shoji; Terai, Hidetomi; Suzuki, Takako; Nakano, Masaki; Takahashi, Jun; Nakamura, Yukio: Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis

Original Article

Panigrahi, Inusha; Kaur, Parminder; Chaudhry, Chakshu; Shariq, Mohd; Naorem, Devika D.; Gowtham, BC; Kaur, Anupriya; Dayal, Devi: Short Stature Syndromes: Case Series from India

Publication Date: 12 April 2021

Original Article

Tripathi, Poonam; Agarwal, Sarita; Tewari, Satyendra; Mandal, Kausik: Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities
Supplementary Material

Publication Date: 01 April 2021

Case Report

Parravicini, Stefano; Pasca, Ludovica; Zanaboni, Martina Paola; Varesio, Costanza; Rognone, Elisa; Totaro, Martina; Gana, Simone; Rossi, Elena; De Giorgis, Valentina: Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report
Supplementary Material

Original Article

Nascimento, Cristian Rodrigues do; Basílio, Dyowani dos Santos; Lopes, Johnnatas Mikael; Cansanção, Isaac Farias: Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil
Supplementary Material

Publication Date: 10 March 2021

Original Article

Bhat, Maya Dattatraya; Manjunath, Netravathi; Kumari, Renu; Faruq, Mohammed; Pal, Pramod Kumar; Prasad, Chandrajit; Mundlamuri, Ravindranadh Chowdary; Nalini, Atchayaram; Udupi, Gautham Arunachal; Baishya, Priyanka Priyadarshini; Kulanthaivelu, Karthik: Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

Publication Date: 03 March 2021

Case Based Review

Rivera-Sepulveda, Andrea; Colón-Fontánez, Francisco; López, Maricarmen; Puig-Ramos, Gilberto: Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians

Case-Based Review

Butler, Merlin G.: Prolapsed Rectum and Risk Factors in Prader–Willi Syndrome: A Case-Based Review

Original Article

Dawman, Lesa; Tiewsoh, Karalanglin; Barman, Prabal; Pratyusha, Kambagiri; Chaakchhuak, Lalawmpuia; Sharawat, Indar Kumar: Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

Publication Date: 25 February 2021

Case-Based Review

Mirza, Nida; Upadhyaya, Sundeep; Mehta, Sagar; Malhotra, Smita; Sibal, Anupam: Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene

Publication Date: 19 February 2021

Case Report

Nieto-Barcelo, Juan Jose; Gonzalez Montes, Noelia; Gonzalo Alonso, Isabel; Martinez, Francisco; Aparisi, Maria Jose; Martinez-Matilla, Marina; Marco Hernandez, Ana Victoria; Tomás Vila, Miguel: Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation

Original Article

Kaur, Harvinder; Bhalla, Anil Kumar; Panigrahi, Inusha: Percentile Charts for Body Mass Index of Indian Down Syndrome Children

Original Article

Shapoo, Nidha S.; Masood, Akbar; Bhat, Javid R.; Bhatia, A. S.; Shah, Idrees A.; Ganai, Bashir A.: CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children

Publication Date: 17 February 2021

Case Based Review

Lund, Kelli C.; Scottoline, Brian; Jordan, Brian K.: Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity

Case Report

Ranganath, Prajnya; Patil, Mallikarjun: Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

Publication Date: 11 February 2021

Original Article

Eldem, Aslı; Ayna, Tülay Kılıçaslan; Baran, Maşallah; Soyöz, Mustafa; Pirim, İbrahim: Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

Research Paper

Elangovan, Bharathi; NT, Rajesh; Subrahmanian, Meenu: Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates

Publication Date: 09 February 2021

Original Article

Singh, Akanksha; Singh, Ankur; Mishra, Om Prakash; Prasad, Rajniti; Narayan, Gopeshwar; Batra, Vineeta V; Tabatabaeifar, Mansoureh; Schaefer, Franz: Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study

Publication Date: 02 February 2021

Case Report

Fonseca, J; Melo, C; Ferreira, C; Sampaio, M; Sousa, R; Leão, M: RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

Case Report

Somarajan, Bindu I.; Gupta, Shikha; Mahalingam, Karthikeyan; Azmira, Kishan; Gupta, Viney: Digenic Inheritance in Juvenile Open-Angle Glaucoma

Publication Date: 12 January 2021

Case Based Review

Menon, Dipika; Dentel, John N.; Sanil, Yamuna; Lawrence, David: Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin's Syndrome

Publication Date: 07 January 2021

Clinical Report

Carvalho, Daniel R.; Speck-Martins, Carlos E.; Martins, Bernardo J. A. F.; Izumi, Ana Paula; La Rocque-Ferreira, Alessandra: Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

Publication Date: 06 January 2021

Case Based Review

Petrović, Davor; Čulić, Vida; Swinderek-Alsayed, Zofia: Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

Case Report

Goyal, Manisha; Faruq, Mohammed; Gupta, Ashok; Shrivastava, Divya; Shamim, Uzma: 6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

Original Article

Abdellatif, May A.K.; Eyada, Eman; Rabie, Walaa; Abdelaziz, Azza; Shahin, Walaa: Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia

Publication Date: 18 December 2020

Original Article

Gowda, Vykuntaraju K.; Vignesh, Sukanya; Nagarajan, Balamurugan; Srinivasan, Varunvenkat M.; Battina, Manojna; Bhat, Maya; Christopher, Rita: Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

Publication Date: 15 December 2020

Original Article

Deeb, Asma; Juraibah, Fahad Al; Dubayee, Muhammad Al; Habeb, Abdelhadi: X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries
Supplementary Material

Original Article

Nevin, Suzanne M.; McLoone, Jordana; Wakefield, Claire E.; Kennedy, Sean E.; McCarthy, Hugh J.: Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences
Supplementary Material

Publication Date: 10 December 2020

Case Report

Kumari, Divya; Chaudhary, Deepti; Panigrahi, Inusha; Rohit, Manoj K.: Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes

Case-Based Review

Patil, Siddaramappa J.; Pande, Shruti; Matalia, Jyoti; Bhat, Venkatraman; Kekatpure, Minal; Girisha, Katta Mohan: Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

Publication Date: 07 December 2020

Case Report

Chidambaram, Aakash Chandran; Talwar, Milan; Kasinathan, Ananthanarayanan; Gulati, Reena; Selvan, Tamil: Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

Case Report

de Carvalho, Acácia Fernandes Lacerda; Pitanga, Paula Monique Leite; Alves, Esmeralda Santos; Miguel, Diego Santana Chaves Geraldo; Santo, Laila Damasceno Espirito; de Araújo, Ana Eliete Fernandes; Ornellas, Ana Carolina Pereira; Toralles, Maria Betânia Pereira: Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years

Case Report

Kwong, Chit; Ming, Ho; Na, Suet: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate

Case Report

Nagabushana, Divya; Chatterjee, Aparajita; Kenchaiah, Raghavendra; Asranna, Ajay; Arunachal, Gautham; Mundlamuri, Ravindranadh Chowdary: Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

Publication Date: 02 December 2020

Case Report

Alhashem, Amal; Alazmeh, Saria; Barakat, Ayla; Alfares, Ahmed; Elghezal, Hatem: De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

Publication Date: 25 November 2020

Original Article

Cakan, Nursen; Yılmaz, Resul; Karaaslan, Erhan; Ateş, Ömer: Association of Macrophage Migration Inhibitory Factor Gene –173 G/C Polymorphism (rs755622) with Familial Mediterranean Fever in Children

Original Article

Panda, Prateek Kumar; Sharawat, Indar Kumar; Dawman, Lesa: GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review

Publication Date: 23 November 2020

Case Report

Matsushita, Yuki; Nagata, Hazumu; Ogawa, Masanobu; Shikada, Sawako; Ishikawa, Taisuke; Makita, Naomasa: A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing

Case Report

Nguyen, Hoang H.; Umapathi, Krishna Kishore; Bokowski, John W.; Hogan, Kelsey; Hart, Alexa; Li, Mindy H.: Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

Publication Date: 19 November 2020

Case Report

Akduman, Hasan; Dilli, Dilek; Ceylaner, Serdar: A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Case Report

Aspit, Liam; Arwas, Noga; Krymko, Hanna; Etzion, Yoram; Parvari, Ruti; Levitas, Aviva: Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes
Supplementary Material

Case Report

Binamer, Yousef; Chisti, Muzamil A.: Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

Case Report

Sánchez-Herrero, Ángeles; Carmona-Talavera, Diego; García-Verdevio, M Elia; Hernando-Espinilla, Amaya; Estañ-Capell, Nuria: Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case

Original Article

Elmas, Muhsin; Yildirim, Umit Can: Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

Publication Date: 09 November 2020

Erratum

Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed: Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Publication Date: 26 October 2020

Case Report

Udrea, Daniel S.; Lopez, Merrick; Avesar, Michael; Qureshi, Sonea; Moretti, Anthony; Abd-Allah, Shamel A.; Chandnani, Harsha K.: Acute COVID-19 Infection in a Pediatric Patient with ROHHAD

Publication Date: 19 October 2020

Case Report

Arora, Veronica; Pal, Swasti; Kulshreshtha, Samarth; Verma, Ishwar C.: A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis

Original Article

Dawman, Lesa; Kaur, Anit; Nada, Ritambhra; Chakraborty, Soumalya; Handa, Sanjeev; Sharawat, Indar Kumar; Tiewsoh, Karalanglin: Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

Original Article

Gowda, Vykuntaraju K.; Gupta, Priya; Bharathi, Narmadham K.; Bhat, Maya; Shivappa, Sanjay K.; Benakappa, Naveen: Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

Publication Date: 15 October 2020

Case Report

Bağış, Haydar; Öztürk, Özden; Bolu, Semih; Taşkın, Bayram: A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

Publication Date: 08 October 2020

Case Report

Bradinova, Irena; Andonova, Silvia; Savov, Alexey: Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

Case Report

Gowda, Vykuntaraju K.; Kerur, Chetan; Vamyanmane, Dhananjaya K.; Kumar, Pragalatha; Nagarajappa, Vani H.; Shivappa, Sanjay K.: A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis

Case Report

Spehar Uroic, Anita; Milenkovic, Dragan; De Franco, Elisa; Bilic, Ernest; Rojnic Putarek, Natasa; Krnic, Nevena: Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Publication Date: 05 October 2020

Case Report

Higuchi, Tsukasa; Yoshizawa, Kazuki; Hatata, Tomoko; Yoshizawa, Katsumi; Takamizawa, Shigeru; Kobayashi, Jun; Kubota, Noriko; Hidaka, Eiko: Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity

Case Report

Zdanowicz, Katarzyna; Uscinowicz, Miroslawa; Rakowska, Magdalena; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz; Lebensztejn, Dariusz Marek: Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report

Original Article

Rabie, Walaa; Al-Taweel, Ahmed; Abuelhamd, Walaa A.; Shahin, Walaa; Nazeer, Marian; Aly, Hany: Erythrocyte Complement Receptor 1 (ECR1) Gene Polymorphisms and Neonatal Respiratory Distress Syndrome

Publication Date: 01 October 2020

Original Article

Rojnueangit, Kitiwan; Khetkham, Thanitchet; Onsod, Preyaporn; Chareonsirisuthigul, Takol: Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing
Supplementary Material

Publication Date: 28 September 2020

Case Report

Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Publication Date: 23 September 2020

Case Report

Carman, Kursat Bora; Kaplan, Emre; Aslan, Cefa Nil; Kocagil, Sinem; Cilinigr, Oguz; Yarar, Coskun: Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features

Case Report

Vakrilova, Liliya; Hitrova-Nikolova, Stanislava; Bradinova, Irena: Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

Publication Date: 18 September 2020

Original Article

Grewal, Meenu; Muranjan, Mamta: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

Original Article

Milone, Roberta; Cesario, Claudia; Goldoni, Marina; Pasquariello, Rosa; Fusilli, Caterina; Giovannetti, Agnese; Giglio, Sabrina; Novelli, Antonio; Caputo, Viviana; Cioni, Giovanni; Mazza, Tommaso; Battaglia, Agatino; Bernardini, Laura; Battini, Roberta: Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders
Supplementary Material

Original Article

Noorian, Shahab; Khonsari, Nami Mohammadian; Savad, Shahram; Hakak-Zargar, Benyamin; Voth, Tessa; Kabir, Koroush: Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

Publication Date: 16 September 2020

Rapid Communication

Panigrahi, Inusha; Qureshi, Yousaf; Kornak, Uwe: Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children

Publication Date: 07 September 2020

Case Report

Segovia-Ortí, Raquel; Espinosa de los Monteros Aliaga Cano, Natalia; Lumbreras, Javier; Sotto-Esteban, Diego de; Rodrigo, María Dolores: Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Original Article

Sudarshan, Shruthi; Kumar, Atin; Gupta, Arun; Bhari, Neetu; Sethuraman, Gomathy; Kaushal, Tanuja; Pradhan, Ankita; Sapra, Savita; Gupta, Neerja; Kaur, Punit; Gulati, Sheffali; Chakrawarty, Biswaroop; Danda, Sumita; Bhatt, Meenakshi; Kapoor, Seema; Girisha, Katta M.; Sankhyan, Naveen; Kabra, Madhulika; Chowdhury, Madhumita Roy: Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Supplementary Material

Publication Date: 04 September 2020

Case Report

Demir, Damla; Kendir Demirkol, Yasemin; Gerenli, Nelgin; Aktaş Karabay, Ezgi: Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

Publication Date: 02 September 2020

Case Report

Dwivedi, Aradhana; Kumar, Vivek; Ramamurthy, H Ravi: Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report

Original Article

Tamhankar, Parag M.; Vasudevan, Lakshmi; Kondurkar, Pratima; Niazi, Sarfaraj; Christopher, Rita; Solanki, Dhaval; Dholakia, Pooja; Muranjan, Mamta; Kamate, Mahesh; Kalane, Umesh; Sheth, Jayesh; Tamhankar, Vasundhara; Gulati, Reena; Vasikarla, Madhavi; Danda, Sumita; Naushad, Shaik M.; Girisha, Katta M.; Patil, Shekhar: Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1
Supplementary Material Supplementary Material

Publication Date: 31 August 2020

Case Report

Llorente-La-Orden, Carlos; Burgos-Blasco, Bárbara; Domingo-Gordo, Blanca; Hernández-García, Elena; Gómez-de-Liaño, Rosario: Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure

Case Report

Pournami, Femitha; MK, Alok Kumar; Panackal, Anila V.; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease

Case Report

Vrkić Boban, Ivona; Sekiguchi, Futoshi; Lozić, Mirela; Miyake, Noriko; Matsumoto, Naomichi; Lozić, Bernarda: A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder
Supplementary Material

Case Report

Waldner, Richelle C.; Rojas-Vasquez, Marta; Metcalfe, Peter D.; Haqq, Andrea M.: Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor

Publication Date: 26 August 2020

Case Report

Sandweiss, Alexander J.; Patel, Shalinkumar; Bader, Mohammad Y.; Kylat, Ranjit I.: A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype
Supplementary Material

Publication Date: 20 August 2020

Case Report

Mastrangelo, Mario; Torres, Barbara; De Vita, Gloria; Goldoni, Marina; De Giorgi, Agnese; Bernardini, Laura; Leuzzi, Vincenzo: Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

Case Report

Menon, Jagadeesh; Shanmugam, Naresh; Srinivas, Sripriya; Vij, Mukul; Jalan, Anil; Srinivas Reddy, Mettu; Rela, Mohamed: Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Original Article

Brault, Jennifer; Walsh, Laurence; Vance, Gail H.; Weaver, David D.: Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Publication Date: 04 August 2020

Case Report

Al-Araimi, Musallam; Al-Hosni, Aliya; Maimani, Ashwaq Al: A First-Case Report of Pycnodysostosis in an Omani Boy

Case Report

Arora, Veronica; Bijarnia-Mahay, Sunita; Saxena, K K.; Suman, Praveen; Kukreja, Shyam: Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

Original Article

Gowda, Vykuntaraju K.; Vegda, Hemadri; Sugumar, Kiruthiga; Narayanappa, Gayathri; Srinivasan, Varunvenkat M.; Santhoshkumar, Rashmi; Bhat, Maya; Balu, Sam; Naveen, Mohan Rao: Neuronal Ceroid Lipofuscinosis: A Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India

Publication Date: 31 July 2020

Rapid Communication

Piccolo, Gianluca; Amadori, Elisabetta; Vari, Maria Stella; Marchese, Francesca; Riva, Antonella; Ghirotto, Valentina; Iacomino, Michele; Salpietro, Vincenzo; Zara, Federico; Striano, Pasquale: Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder

Publication Date: 29 July 2020

Case Report

Al-Araimi, Musallam; Hamza, Nishath; Al-Hosni, Aliya; Al Maimani, Ashwaq: Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

Case Report

Jha, Ruchika; Kovilapu, Uday B.; Devgan, Amit; Sondhi, Vishal: Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria

Case Report

Pérez-Solís, David; Montes-Zapico, Bárbara; Rodríguez-Dehli, Ana-Cristina; García-Hoyos, María; Arroyo-Hernández, Mireia: Novel UGT1A1 Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II

Case Report

Schrander, Dirk E.; Staal, Heleen M.; Johnson, Colin A.; Calder, Alistair; Ghali, Neeti; Chudley, Albert E.; Stumpel, Constance T.R.M.: Orthopaedic Aspects of SAMS Syndrome

Case Report

Yano, Shoji; Moseley, Kathryn; Mahajan, Neha; Warren, Mikako; Vachon, Linda: Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

Publication Date: 27 July 2020

Case Report

Brandão, Gabriela Rangel; Welter, Amanda Thum; Abech, Gabriel Dotta; Almeida, Carla Bastos da Costa; Okabayashi, Caio Seiti Mestre; Gadelha, Kerolainy Alves; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado: Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association

Case Report

Singh, Ravi Kumar; Arora, Veronica; Tiwari, Vaibhav; Gupta, Deepti; Gupta, Anurag; Puri, Ratna Dua: Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation

Original Article

Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Nagarajan, Balamurugan; Bhat, Maya; Shivappa, Sanjay K.; Benakappa, Naveen: Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India

Publication Date: 23 July 2020

Case Report

Santhakumar, Senthilvelan; Lukas, Jospaul; Unnikrishnan, Gopikrishnan; Thomas, Bejoy; Kesavadas, Chandrasekharan: Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings

Review Article

Aygüneş, Utku; Doğan, Melih Timuçin; Keçeli, Avni Merter: PHACE Syndrome in a Child with Structural Malformations of the Brain

Publication Date: 20 July 2020

Case Report

Farra, Chantal; Abdouni, Lina; Hani, Abeer; Dirani, Leyla; Hamdar, Layal; Souaid, Mirna; Awwad, Johnny: 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum
Supplementary Material

Case Report

Perry, Michael D.; Evans, Martin J.; Byrd, Philip J.; Taylor, Malcolm R.: Biallelic Mutation of SETX and Additional Likely “In Cis” SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2

Publication Date: 08 July 2020

Case Report

Ramos-Lopes, Joana; Ribeiro, Joana; Laço, Mário; Alves, Cristina; Matos, Anabela; Costa, Cármen: A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement

Publication Date: 19 June 2020

Case Report

Fontana, Paolo; Bernardini, Laura; Lombardi, Cinzia; Giuffrida, Maria Grazia; Ciavarella, Maria; Capalbo, Anna; Maioli, Marianna; Scarano, Francesca; Cantalupo, Giuseppina; Falco, Mariateresa; Scarano, Gioacchino; Lonardo, Fortunato: De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

Case Report

Karba, Brendan E.; Lemay, Jean-Francois; McLeod, Scott A.: The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

Publication Date: 04 December 2019

Erratum

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients