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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]

Deletion in the OA1 gene in a family with congenital X linked nystagmus
Deletion in the OA1 gene in a family with congenital X linked nystagmus
X-Linked ocular albinism - Nettleship-Falls ocular albinism
British Journal of Ophthalmology
British Journal of Ophthalmology
Dermatology Online Journal

X-Linked ocular albinism - Nettleship-Falls ocular albinism
X-Linked ocular albinism - Nettleship-Falls ocular albinism
Identification of two novel mutations in families with X-linked ocular albinism
Dermatology Online Journal
Dermatology Online Journal
Molecular Vision

   
Identification of two novel mutations in families with X-linked ocular albinism
   
Molecular Vision
   


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Edited by Aldo Campana, August 21, 2012