Article
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
BMC medical genetics - 30 Jul 2016
Gradstein Libe, Zolotushko Jenny, Sergeev Yuri V, Lavy Itay, Narkis Ginat, Perez Yonatan, Guigui Sarah, Sharon Dror, Banin Eyal, Walter Eyal, Lifshitz Tova, Birk Ohad S
Abstract excerpt
BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. METHODS: Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients' clinical...
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