title: CHARGE syndrome: a review.
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.
authors.affiliation: Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: Hsu
authors.forename: Alan
authors.initials: A
authors.lastname: Ma
authors.forename: Meredith
authors.initials: M
authors.lastname: Wilson
authors.forename: George
authors.initials: G
authors.lastname: Williams
authors.forename: John
authors.initials: J
authors.lastname: Curotta
authors.forename: Craig F
authors.initials: CF
authors.lastname: Munns
authors.forename: Sam
authors.initials: S
authors.lastname: Mehr
mesh_terms: D058747:CHARGE Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D009154:Mutation
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D004265:DNA Helicases; C491434:CHD7 protein, human
keywords: ENT; behavioural; endocrinology; genetics; immunology