Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

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Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 89-95

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Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

By Ding Xiaoyan   Patel Mrinali   Herzlich Alexandra   Sieving Pamela   Chan Chi-Chao  

Ophthalmic Genetics, Vol. 30, Iss. 3, 2009-09 ,pp. : 127-135

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Analysis of red/green color discrimination in subjects with a single X-linked photopigment gene

By Crognale M.A.   Teller D.Y.   Yamaguchi T.   Motulsky A.G.   Deeb S.S.  

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Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

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Three Novel Mutations in the X-Linked Juvenile Retinoschisis (XLRS1) Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome

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