The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
Clin Dysmorphol
; 14(2): 73-80, 2005 Apr.
Article
em En
| MEDLINE
| ID: mdl-15770128
ABSTRACT
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Proteínas de Transporte
/
Deformidades Congênitas dos Membros
/
Face
/
Perda Auditiva
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Clin Dysmorphol
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Bélgica