Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choan...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Yeonkyung, Lee, Ho-Seok, Yu, Jung-Seok, Ahn, Kangmo, Ki, Chang-Seok, Kim, Jihyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935113/
https://www.ncbi.nlm.nih.gov/pubmed/24578717
http://dx.doi.org/10.3345/kjp.2014.57.1.46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935113/
https://www.ncbi.nlm.nih.gov/pubmed/24578717
http://dx.doi.org/10.3345/kjp.2014.57.1.46

Ejemplares similares