albinism—oculocutaneous—7

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albinism—oculocutaneous—72016-11-24T14:52:05+00:00

albinism—oculocutaneous—7

DERMATOLOGY

Definition A disorder of pigmentation (OMIM:615179) characterised by reduced biosynthesis of melanin in the skin, hair and eyes. Patients have reduced or absent pigmentation and classic ocular abnormalities of albinism, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

Molecular pathology Defects of C10orf11 are associated with  albinism—oculocutaneous—7. 

References http://www.uniprot.org/uniprot/Q9H2I8

http://omim.org/entry/615179

 

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