Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

American Journal of Medical Genetics, Part A

Volumn 143, Issue 22, 2007, Pages 2712-2715

  Van De Laar, Ingrid ^a   Dooijes, Dennis ^a   Hoefsloot, Lies ^b   Simon, Marleen ^a   Hoogeboom, Jeanette ^a   Devriendt, Koenraad ^c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

CHARGE syndrome; CHD7; Congenital lower limb deformities; Congenital upper limb deformities

Indexed keywords

ARTICLE; CASE REPORT; CELL INTERACTION; CHD7 GENE; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; EPITHELIUM CELL; GENE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOTHESIS; LIMB MALFORMATION; MESENCHYME CELL; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SYNDROME CHARGE;

ADULT; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PHENOTYPE; PREGNANCY; SYNDROME;

EID: 35948932253     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32008     Document Type: Article

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