DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 19 August 2019

Case Report

Pournami, Femitha; Upadhyay, Swati; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

Publication Date: 12 August 2019

Case Report

Atli, Emine Ikbal; Gurkan, Hakan; Atli, Engin; Vatansever, Ulfet; Acunas, Betul; Mail, Cisem: De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Case Report

Taslicay, Ceylan Altintas; Dervisoglu, Elmire; Ciftci, Ercument; Corapcioglu, Funda; Anik, Yonca: PHACE Syndrome: A Rare Case

Publication Date: 04 August 2019

Case Report

Pavone, Piero; Marino, Simona Domenica; Corsello, Giovanni; Ruggieri, Martino; Chiodo, Danilo Castellano; Marino, Silvia; Falsaperla, Raffaele: Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

Original Article

El-Bassyouni, Hala T.; Hassan, Nagwa; Mahfouz, Inas; Abd-Elnaby, Azza E.; Mostafa, Mostafa I.; Tosson, Angie M.S.: Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

Publication Date: 30 July 2019

Case Report

Nair, Pratibha; El-Bazzal, Lara; Mansour, Hicham; Sabbagh, Sandra; Al-Ali, Mahmoud Taleb; Gambarini, Alicia; Delague, Valerie; El-Hayek, Stephany; Mégarbané, André: Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Publication Date: 09 July 2019

Case Report

Thomas, Elizabeth; Lewis, Andrea M.; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A.: Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Publication Date: 12 June 2019

Publication Date: 11 June 2019

Publication Date: 04 June 2019

Case Report

Publication Date: 28 May 2019

Case Report

Vázquez-Justes, Daniel; Carreño-Gago, Lidia; García-Arumi, Elena; Traveset, Alicia; Montoya, Julio; Ruiz-Pesini, Eduardo; López, Ricard; Brieva, Luis: Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Publication Date: 20 April 2019

Case Report

Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas: Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Case Report

LaBrecque, Brett; Contreras, Marioxy; Giordano, Jessica; Parravicini, Elvira: Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Publication Date: 03 April 2019

Case Report

Kamranjam, Mana; Hosseini, Seyedeh Maryam; Alaei, Mohammadreza: A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report