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Xp22.3 GeneReviews Google OMIM PubMed [Albinism] Albinism, ocular, type I *Gene map locus Xp22.3 Nettleship-Falls type ocular albinism OA1 [Clinical features: albino pupillary reflex; depigmented fundus; severely reduced visual acuity; nystagmus; photophobia] [Inheritance: X-linked] |
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Identification of two novel mutations in families with X-linked ocular albinism |
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Molecular Vision |
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Edited by Aldo Campana,
August 21, 2012
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