NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
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DOI: 10.1080/02713683.2017.1304560
Abstract: ABSTRACT Purpose: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. Methods: Seven affected members were recruited. Medical history, clinical findings,… read more here.
Keywords: horan syndrome; nhs gene; ashkenazi jewish; jewish families ... See more keywords