Article
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Apr 2021
Smits Jeroen J, van Beelen Eline, Weegerink Nicole J D, Oostrik Jaap, Huygen Patrick L M, Beynon Andy J, Lanting Cornelis P, Kunst Henricus P M, Schraders Margit, Kremer Hannie, de Vrieze Erik, Pennings Ronald J E
Abstract excerpt
OBJECTIVE: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. STUDY DESIGN: Genotype-phenotype correlation study. Genetic analysis consisted of linkage analysis, variable number of tandem repeats analysis, and Sanger sequencing. Audiovestibular function was examined. Regression analysis was performed on pure tone audiometry and speech recognition scores and...
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