DOI: 10.1055/s-00029027

Journal of Pediatric Genetics


Publication Date: 18 May 2018

Publication Date: 16 May 2018

Case Report

Rodríguez, Fernando; Vallejos, Carla; Bolanos-Garcia, Víctor M.; Ponce, Diana; Unanue, Nancy; Garay, Francisco; Cassorla, Fernando; Aracena, Mariana: Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant

Publication Date: 05 April 2018

Publication Date: 04 April 2018

Publication Date: 09 March 2018

Case Report

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)

Publication Date: 07 March 2018

Case Report

Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner: A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Case Report

Camacho, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

Publication Date: 10 May 2017