Autosomal Dominant Inherited Hearing Impairment Caused by a Missense Mutation in COL11A2 (DFNA13)
نویسندگان
چکیده
منابع مشابه
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
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 ...
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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2001
ISSN: 0886-4470
DOI: 10.1001/archotol.127.1.13