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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

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