The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene

Clinical Dysmorphology

Volumn 14, Issue 2, 2005, Pages 73-80

  Van Den Ende, J J ^a   Mattelaer, P ^b   Declau, F ^a   Vanhoenacker, F ^a   Claes, J ^b   Van Hul, E ^a   Baten, E ^b  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b St Lucas Hospital   (Belgium)

Author keywords

Facio audio symphalangism syndrome; NOG gene; Stapes ankylosis; Symphalangism

Indexed keywords

NOGGIN;

ADULT; ARTHROPATHY; ARTICLE; CHROMOSOME 17Q; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; CONDUCTION DEAFNESS; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FACE MALFORMATION; FACIOAUDIOSYMPHALANGISM SYNDROME; FAMILIAL DISEASE; FEMALE; GENE; GENE FUNCTION; HUMAN; MALE; NOG GENE; NONSENSE MUTATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; BELGIUM; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FACE; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEARING LOSS; HETEROZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; SYNDROME;

EID: 16444372891     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200504000-00004     Document Type: Article

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