DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

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

Publication Date: 08 October 2020

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

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

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

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

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

Publication Date: 08 September 2020

Original Article

Khaeso, Kanyarat; Nakkam, Nontaya; Komwilaisak, Patcharee; Wongmast, Piyathida; Chainansamit, Su-on; Dornsena, Areerat; Kanjanawart, Sirimas; Vannaprasaht, Suda; Tassaneeyakul, Wichittra: Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients

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

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

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

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

Publication Date: 26 August 2020

Case Report

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

Publication Date: 13 August 2020

Publication Date: 10 August 2020

Research Article

Dahpy, Marwa A.; Saleem, Tahia H.; El-Asheer, Osama M.; ELrasoul, Ahmed Abd; Abo Elgeit, Amir M.: Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt

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

Bakutenko, Ivan Y.; Hileuskaya, Irena D.; Nikitchenko, Natalia V.; Sechko, Elena V.; Tchitchko, Alexej M.; Batyan, Galina M.; Sukalo, Alexander V.; Ryabokon, Nadezhda I.: Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children

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

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

Original Article

Floriani, Maiara A.; Glaeser, Andressa B.; Dorfman, Luiza E.; Agnes, Grasiela; Rosa, Rafael F. M.; Zen, Paulo R. G.: GATA4 Deletions Associated with Congenital Heart Diseases in South Brazil

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

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: 30 June 2020

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

Publication Date: 10 June 2020

Publication Date: 28 May 2020

Case Report

Kalmár, Tibor; Szakszon, Katalin; Maróti, Zoltán; Zimmermann, Alíz; Máté, Adrienn; Zombor, Melinda; Bereczki, Csaba; Sztriha, László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Publication Date: 12 May 2020

Case Report

Marcilla Vázquez, Carlos; Carrascosa Romero, María del Carmen; Martínez Gutiérrez, Andrés; Baquero Cano, María; Alfaro Ponce, Blanca; Dabad Moreno, María Jesús: A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Publication Date: 29 April 2020

Case Report

Gogou, Maria; Pavlou, Evangelos; Kimiskidis, Vasilios; Kouskouras, Konstantinos; Pavlidou, Efterpi; Papadopoulos, Theophanis; Haidopoulou, Katerina; Fidani, Liana: Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees

Publication Date: 25 April 2020

Case Report

Marji, Fady P.; Hall, Jennifer A.; Anstadt, Erin; Madan-Khetarpal, Suneeta; Goldstein, Jesse A.; Losee, Joseph E.: A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

Publication Date: 23 April 2020

Publication Date: 21 April 2020

Case Report

Afifi, Hanan H.; El-Kamah, Ghada Y.; Kamel, Alaa K.; Abd Allah, Sally G.; Hammad, Sayda; Sayed-Ahmed, Mohammed M.; Hussein, Shymaa H.; Mohamed, Amal M.: Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Publication Date: 31 March 2020

Case Report

Case Report

Kops, Samantha A.; Kylat, Ranjit I.; Bhatia, Shanti; Seckeler, Michael D.; Barber, Brent J.; Bader, Mohammad Y.: Genetic Characterization of a Model Ciliopathy: Bardet–Biedl's Syndrome

Publication Date: 09 March 2020

Case Report

Iezzi, Maria Laura; Varriale, Gaia; Zagaroli, Luca; Lasorella, Stefania; Greco, Marco; Iapadre, Giulia; Verrotti, Alberto: A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Case Report

Lallar, Meenakshi; Arora, Veronica; Saxena, Renu; Puri, Ratna Dua; Verma, Ishwar Chander: Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

Publication Date: 28 February 2020

Case Report

Deconte, Desirée; Correia, Elisa Pacheco Estima; Haubert, Géssica; de Souza, Vinicius; Correia, Jamile Dutra; Maahs, Marcia Angelica Peter; Zen, Paulo Ricardo Gazzola; Fiegenbaum, Marilu; Rosa, Rafael Fabiano Machado: Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

Publication Date: 17 February 2020

Case Report

Bruni, Valentina; Scozzafava, Cristina; Gnazzo, Maria; Parisi, Francesca; Sestito, Simona; Pensabene, Licia; Novelli, Antonio; Concolino, Daniela: Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

Case Report

Publication Date: 12 February 2020

Case Report

Diniz, Bruna Lixinski; Glaeser, Andressa Barreto; Deconte, Desirée; Guaraná, Bruna Baierle; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

Publication Date: 22 January 2020

Case Report

Teles-Silva, Cláudia; Martins, Francisca; Costa, Sandra; Soares, Paulo; Rocha, Gustavo; Flor-de-Lima, Filipa; Pinto, Helena; Ramalho, Carla; Oliveira, Renata; Brandão, Otília; Guimarães, Hercília: Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Publication Date: 20 January 2020

Case Report

Williams, Jason L.; McDonald, Marie T.; Seifert, Bryce A.; Deak, Kristen L.; Rehder, Catherine W.; Campbell, Michael J.: An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

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