Updated diagnostic criteria for CHARGE syndrome: a proposal.
Verloes
Alain
A
Clinical Genetics Unit, Hôpital Robert Debré, Paris, France. alain.verloes@rdb.ap-hop-paris.fr
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D002754:Choanal Atresia / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D003638:Deafness / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017410:Practice Guidelines as Topic; D013577:Syndrome