英语词汇“oculocutaneous albinism type 4”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	oculocutaneous albinism type 4
释义	oculocutaneous albinism type 4 oculocutaneous albinism type 4 An inherited disorder of pigmentation (OMIM:606574) characterised by reduced biosynthesis of melanin in the skin, hair and eyes, and classic albinism-type ocular abnormalities: decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels and nystagmus. Molecular pathology OCA4 is caused by a mutation of SLC45A2 on chromosome 5p13.2, which encodes a transporter protein that mediates melanin synthesis.
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