Ontology highlight
ABSTRACT:
SUBMITTER: Lee SJ
PROVIDER: S-EPMC4272946 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Lee Seung Jun SJ Chae Jong Hee JH Lee Jung Ae JA Cho Sung Im SI Seo Soo Hyun SH Park Hyunwoong H Seong Moon-Woo MW Park Sung Sup SS
Annals of laboratory medicine 20141208 1
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear anomalies or deafness. Mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene have been found in 65-70% of CHARGE syndrome patients. Here, we describe a 16-month-old boy with typical CHARGE syndrome, who was referred for CHD7 gene analysis. ...[more]