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Review
. 2014 Jul;50(7):504-11.
doi: 10.1111/jpc.12497. Epub 2014 Feb 19.

CHARGE syndrome: a review

Peter Hsu  1 , Alan Ma, Meredith Wilson, George Williams, John Curotta, Craig F Munns, Sam Mehr
Affiliations
Review

CHARGE syndrome: a review

Peter Hsu et al. J Paediatr Child Health. 2014 Jul.

Abstract

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.

Keywords: ENT; behavioural; endocrinology; genetics; immunology.

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