Article
[Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].
HNO - 1 Aug 2003
Oh N, Kupka S, Mirghomizadeh F, Arold R, Zimmermann R, Blin N, Zenner H P, Pfister M
Abstract excerpt
BACKGROUND: DFN3 ( "stapes gusher") is the most frequent form of X-linked hearing impairment. It accounts for up to 0.5% of all cases of severe childhood hearing disorders. PATIENTS AND METHODS: Monozygotic twins with suspected stapes gusher syndrome, their mother, and control individuals were analyzed clinically and genetically. RESULTS: The clinical investigations confirmed a DFN3 phenotype in both brothers who...
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