Radial aplasia in CHARGE syndrome: A new association

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 239-241

  Wright, E M M Burkitt ^a,b   O'Connor, R ^c   Kerr, B A ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c ROYAL PRESTON HOSPITAL   (United Kingdom)

Author keywords

CHARGE syndrome; CHD7 gene; Limb defects; Radial aplasia; Severe developmental delay

Indexed keywords

AMNIOCENTESIS; AORTA COARCTATION; ARTICLE; CASE REPORT; CHOANA ATRESIA; FACE ASYMMETRY; FACE DYSMORPHIA; FACIAL NERVE PARALYSIS; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; INFANT; MOLECULAR GENETICS; NUTRITION; RADIUS APLASIA; SEIZURE; SYNDROME CHARGE; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHOANAL ATRESIA; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; EAR; EXONS; FEMALE; FRAMESHIFT MUTATION; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; PREGNANCY; RADIUS; SEQUENCE ANALYSIS, DNA; SYNDROME; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

FISTULA;

EID: 67650711097     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.017     Document Type: Article

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