DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 07 · September 2018 DOI: 10.1055/s-008-41068

Original Article

Rapid Communication

Efthymiou, Stephanie; Salpietro, Vincenzo; Bettencourt, Conceicao; Houlden, Henry: Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Case Report

Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner: A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia
Camacho, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family
Costain, Gregory; Inbar-Feigenberg, Michal; Saleh, Maha; Yaniv-Salem, Shimrit; Ryan, Greg; Morgen, Eric; Goh, Elaine S.; Nishimura, Gen; Chitayat, David: Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)