Article

Female patients clinically affected with X-linked recessive ocular albinism (OA1)

2026-05-11

Abstract excerpt

<title>Abstract</title> <p> Ocular albinism (OA1) is a rare X-linked recessive disorder caused by alterations of the <italic>GPR143</italic> gene. Typically, only males are classically affected, whereas heterozygous carrier females are not clinically affected due to random X chromosome inactivation. We report two cases of female patients presenting with clinical features typical of OA1, caused in one case by t...

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Literature Corpus work: bdc749ce-6f7c-53b6-97f4-42be29d8dd91
DOI: 10.21203/rs.3.rs-9236007/v1

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