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References

These sources were used to develop the Genetics Home Reference condition summary on ocular albinism.

Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M. Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73. PubMed citation
Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4358-64. PubMed citation
Gene Review: Ocular Albinism, X-Linked
Oetting WS. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat. 2002 Feb;19(2):85-92. Review. PubMed citation
Tak WJ, Kim MN, Hong CK, Ro BI, Song KY, Seo SJ. Ocular albinism with sensorineural deafness. Int J Dermatol. 2004 Apr;43(4):290-2. PubMed citation

Reviewed: July 2007

Published: May 20, 2013