Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome

CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, e...

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Detalles Bibliográficos
Autores principales: Shoji, Yasuko, Ida, Shinobu, Etani, Yuri, Yamada, Hiroyuki, Kayatani, Futoshi, Suzuki, Yasuhiro, Kosaki, Kenjiro, Okamoto, Nobuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004997/
https://www.ncbi.nlm.nih.gov/pubmed/24790386
http://dx.doi.org/10.1297/cpe.23.45

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004997/
https://www.ncbi.nlm.nih.gov/pubmed/24790386
http://dx.doi.org/10.1297/cpe.23.45

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