Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly.
Douglas
Andrew G L
AGL
Department of Medicine, Nottingham City Hospital, Hucknall Road, Nottingham South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK.
Lam
Wayne
W
D002754:Choanal Atresia / Q000175:diagnosis* / Q000235:genetics; D002823:Chorion / Q000002:abnormalities; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D004452:Echocardiography / Q000379:methods; D004947:Esophagus / Q000002:abnormalities; D017809:Fatal Outcome; D005402:Fistula / Q000175:diagnosis / Q000235:genetics; D005764:Gastroesophageal Reflux; D005832:Genital Diseases, Male / Q000175:diagnosis / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D017689:Polydactyly / Q000175:diagnosis* / Q000235:genetics; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities