Article

Genetic analysis of albinism caused by compound heterozygous mutation of OCA2 gene in a Chinese family

2023-10-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. These conditions are caused by mutations in specific...

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Literature Corpus work: eac9c04c-2977-509b-999b-2e91bb32fe6d
DOI: 10.21203/rs.3.rs-3271759/v1

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