Article
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
Archives of otolaryngology--head & neck surgery - 1 Mar 2008
Pauw Robert J, van Drunen F J Wendy, Collin Rob W J, Huygen Patrick L M, Kremer Hannie, Cremers Cor W R J
Abstract excerpt
OBJECTIVE: To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460). DESIGN: Clinical investigation. SETTING: Tertiary referral center. PATIENTS: Family members from a large 5-generation pedigree with sensorineural hearing impairment segregating as an autosomal dominant trait. MAIN OUTCOME MEASURES: Cross-sectional and...
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