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单词 Oculocutaneous albinism
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Oculocutaneous albinism

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Oculocutaneous albinism

Oculocutaneous albinism is a form of albinism involving the eyes ("oculo-"), skin ("-cutaneous"), and according to some definitions, the hair as well. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.

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更新时间:2025/6/21 7:14:54