Article
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
Archives of otolaryngology--head & neck surgery - 1 Jan 2001
De Leenheer E M, Kunst H H, McGuirt W T, Prasad S D, Brown M R, Huygen P L, Smith R J, Cremers C W
Abstract excerpt
OBJECTIVE: To analyze the phenotype in a 5-generation DFNA13 family with a missense mutation in the COL11A2 gene that causes autosomal dominant, presumably prelingual, nonsyndromic sensorineural hearing impairment. DESIGN: Family study. SETTING: University hospital department. PATIENTS: Twenty mutation carriers from a large American kindred. METHODS: Cross-sectional analysis using pure-tone threshold measurements...
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