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Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.

Hereditas - 6 Feb 2024

Wang Yanan, Chang Yujie, Gao Mingya, Zang Weiwei, Liu Xiaofei

Abstract excerpt

BACKGROUND: 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 genes necessary for the production of...

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PMID: 38317267
DOI: 10.1186/s41065-024-00312-4
PMCID: PMC10845747

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