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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom