Stapes ankylosis in a family with a novel NOG mutation: Otologic features of the facioaudiosymphalangism syndrome

Otology and Neurotology

Volumn 26, Issue 5, 2005, Pages 934-940

  Declau, Frank ^a,c   Van Den Ende, Jenneke ^a   Baten, Emiel ^b   Mattelaer, Paul ^b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b Algemeen Ziekenhuis Sint Lucas Brugge   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Facioaudiosymphalangism syndrome; NOG missense mutation; Stapes ankylosis

Indexed keywords

CYSTEINE; TRYPTOPHAN;

ADULT; ARTHRODESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BELGIUM; CHROMOSOME 17Q; CLINICAL ARTICLE; CONDUCTION DEAFNESS; CORRELATION ANALYSIS; FACIOAUDIOSYMPHALANGISM SYNDROME; FEMALE; GENE MAPPING; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERMETROPIA; MALE; MIDDLE EAR MALFORMATION; MISSENSE MUTATION; NOG GENE; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; STAPES ANKYLOSIS;

ABNORMALITIES, MULTIPLE; ADULT; ANKYLOSIS; BONE MORPHOGENETIC PROTEINS; CARRIER PROTEINS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; EYE DISEASES; FEMALE; GENOTYPE; HEARING LOSS, CONDUCTIVE; HETEROZYGOTE; HUMANS; HYPEROPIA; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; STAPES; SYNDROME; THUMB; TOES;

EID: 24944467668     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/01.mao.0000185074.58199.6b     Document Type: Article

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