Article
Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Sept 2005
Declau Frank, Van den Ende Jenneke, Baten Emiel, Mattelaer Paul
Abstract excerpt
OBJECTIVE: To report the phenotype-genotype correlation in a Belgian family that was ascertained to have a novel missense mutation in the NOG gene mapping to chromosome 17q22. STUDY DESIGN: To describe the phenotype, a retrospective case study was performed based on the otologic, audiologic, ophthalmologic, and radiologic data of the mutation carriers of the NOG gene. SETTING: Tertiary referral center. PATIENTS:...
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