Article
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Sept 2004
Pennings Ronald J E, Topsakal Vedat, Astuto Lisa, de Brouwer Arjan P M, Wagenaar Mariette, Huygen Patrick L M, Kimberling William J, Deutman August F, Kremer Hannie, Cremers Cor W R J
Abstract excerpt
OBJECTIVE: To describe the findings of audiovestibular and ophthalmologic examinations in four families with mutations in the CDH23 gene. STUDY DESIGN: Family study. SETTING: Tertiary referral center. PATIENTS: Four DFNB12 patients from a large consanguineous Dutch family and six patients from three different Usher syndrome Type ID families were examined. All were identified by at least one pathogenic mutation in...
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