DOI: 10.1055/s-00029027

Journal of Pediatric Genetics


Publication Date: 16 June 2018

Case Report

Upadia, Jariya; Gomes, Alicia; Weiser, Peter; Descartes, Maria: A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Publication Date: 14 June 2018

Case Report

Yakar, Fatih; Celtikci, Emrah; Ozgural, Onur; Eroglu, Umit; Caglar, Yusuf Sukru: Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature

Rapid Communication

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

Publication Date: 02 June 2018

Case Report

Gorla, Sudheer R.; Raja, Kishore R.; Garg, Ashish; Barbouth, Deborah S.; Rusconi, Paolo G.: Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Publication Date: 30 May 2018

Case Report

Callaway, Danielle A.; Campbell, Ian M.; Stover, Samantha R.; Hernandez-Garcia, Andres; Jhangiani, Shalini N.; Punetha, Jaya; Paine, Ingrid S.; Posey, Jennifer E.; Muzny, Donna; Lally, Kevin P.; Lupski, James R.; Shaw, Chad A.; Fernandes, Caraciolo J.; Scott, Daryl A.: Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

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