Premium
CHARGE syndrome: A review
Author(s) -
Hsu Peter,
Ma Alan,
Wilson Meredith,
Williams George,
Curotta John,
Munns Craig F,
Mehr Sam
Publication year - 2014
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.12497
Subject(s) - charge syndrome , medicine , genetic syndromes , charge (physics) , bioinformatics , genetics , pediatrics , psychiatry , biology , physics , quantum mechanics
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.