DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

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

Mehta, Sonia D.; Leavitt, Wendy L.; Alex, Gijo; Saynhalath, Rita; Kiss, Edgar: Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis

Original Article

Civan, Hasret A.; Seyhan, Serhat: Molecular Heterogeneity in Cystic Fibrosis

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: 03 February 2020

Original Article

Al-Haggar, Mohammad; Osman, Engy; Eid, Abdel-Rahman; Barakat, Tarek; El-Morsi, Samar: Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

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: 21 January 2020

Case Report

You, Jong In; Bang, Seul Ki; Yu, Seung-Young; Jin, Kyung Hyun: Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit

Publication Date: 20 January 2020

Case Report

Bekdas, Mervan; Can, Guray; Eroz, Recep; Duzcu, Selma Erdogan: Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

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: 13 January 2020

Letter to the Editor

Bisht, Shilpa; Chawla, Bhavna; Dada, Rima: 8-Hydroxy-2'-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child

Publication Date: 10 January 2020

Case Report

Oyetunji, Aderonke; Butler, Merlin G.: 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

Publication Date: 06 January 2020

Case Report

Abarca-Barriga, Hugo H.; Trubnykova, Milana; Chavesta-Velásquez, Félix; Barletta-Carrillo, Claudia; Ordoñez-Linares, Marco; Rondón-Abuhadba, Andrea: Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

Case Report

Akkus, Nejmiye; Kilic, Betul; Cubuk, Pelin Ozyavuz: Smith–Magenis Syndrome: Clues in the Clinic

Case Report

Al Shibli, Naema; Al-Maawali, Almundher; Elmanzalawy, Alaa; Al-Nabhani, Maryam; Koul, Roshan; Gabr, Ahlam; Al Murshedi, Fathiya: A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

Case Report

Deconte, Desirée; Kreusch, Tulia Cristina; Salvaro, Bruna Pavan; Perin, Wagner Fernando; Ferreira, Maria Angélica Tosi; Kopacek, Cristiane; da Rosa, Ernani Bohrer; Heringer, Jane Iândora; Ligabue-Braun, Rodrigo; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado; Fiegenbaum, Marilu: Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Original Article

Maines, Evelina; Tadiotto, Elisa; Morandi, Grazia; Fedrizzi, Michela; Gaudino, Rossella; Cavarzere, Paolo; Guzzo, Alessandra; Antoniazzi, Franco: Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study

Publication Date: 03 January 2020

Case Report

Vendramini-Pittoli, Siulan; Candido-Souza, Rosana Maria; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho; FitzPatrick, David R.; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio: Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Publication Date: 02 January 2020

Original Article

Singh, Ankur; Prasad, Rajniti; Mishra, Om Prakash: Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

Publication Date: 24 December 2019

Case Report

Mir, Ali; Qahtani, Mohammed; Bashir, Shahid: GRIN2A-Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine

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

Publication Date: 21 November 2019

Clinical Report

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

Publication Date: 18 November 2019

Case Report

Jia, Yue; Yue, Changjun; Bradford, Kathryn; Qing, Xin; Panosyan, Eduard H.; Gotesman, Moran: Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Publication Date: 15 November 2019

Case Report

Alfurayh, Nuha; Alsaif, Fahad; Alballa, Nouf; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah: LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Publication Date: 11 November 2019

Case Report

Sharma, Sonia: Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

Publication Date: 06 November 2019

Case Report

Güzel Erdal, Gülbahar; Balkan, Mahmut: Turner Syndrome with Isochromosome Xq

Publication Date: 04 November 2019

Case Report

Abo El Fotoh, Wafaa Moustafa M.; Al-fiky, Amira Fathy: A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

Case Report

Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco: Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Publication Date: 30 October 2019

Case Report

Anant, Monika; Raj, Nutan; Yadav, Neelu; Prasad, Arun; Kumar, Subhash; Saxena, Ajit K.: Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

Publication Date: 24 October 2019

Case Report

Speer, Rebecca R.; Ezeanya, Uzoamaka C.; Beaudoin, Sarah J.; Glass, Kristen M.; Oji-Mmuo, Christiana N.: Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome

Publication Date: 22 October 2019

Case Report

Gupta, Neerja; Langeh, Nitika; Sridharan, Aparajit; Kabra, Madhulika: Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

Publication Date: 21 October 2019

Case Report

Avnon, Tomer; Svirsky, Ran; Orr-Urtreger, Avi; Sagie, Liora; Fattal-Valevski, Aviva; Fellig, Yakov; Ben-Shachar, Shay: Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

Case Report

Garcha, Jaspreet; Jain, Angita; Atwal, Herjot; Sevlam, Pavalan; Atwal, Paldeep S.: Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

Case Report

Lelii, Mara; Baggi, Elena; Senatore, Laura; Bedeschi, Maria Francesca; Dilena, Robertino; Iascone, Maria; Gangi, Silvana; Marchisio, Paola; Patria, Maria Francesca: Familial Sleep Disorders in Unknown Genetic Syndrome

Publication Date: 16 October 2019

Case Report

Selvam, Pavalan; Singh, Shekhar; Jain, Angita; Atwal, Herjot; Atwal, Paldeep S.: Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Publication Date: 30 September 2019

Case Report

El-Bassyouni, Hala T.; Thomas, Manal M.; Tosson, Angie M.S.: Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

Publication Date: 23 September 2019

Case Report

Akyol Onder, Esra Nagehan; Ozkol, Mine; Nese, Nalan; Taneli, Can; Cankorur, Osman Orkun; Ozunan, Ipek: Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

Case Report

Latchman, Kumarie; Nieto-Moreno, Margarita; Alberola, Roberto Lopez: Spastic Diplegia in a Haitian Girl with Angelman Syndrome

Publication Date: 12 September 2019

Case Report

Cagan Appak, Yeliz; Baran, Masallah; Ozturk Hismi, Burcu; Ozyilmaz, Berk; Vardi, Kader; Ozer Kaya, Ozge; Aksoy, Betul; Kasap Demir, Belde: Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype