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Article

Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal of clinical laboratory analysis - 1 Sept 2022

Thuong Ma Thi Huyen, Anh Luong Thi Lan, Nhung Vu Phuong, Ngoc Tran Thi Bich, Lan Hoang Thu, Phuong Doan Kim, Ha Nguyen Hai, Van Hai Nong, Ton Nguyen Dang

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. Many types of OCA were observed based on the mutation in different causing genes relating to albinism. OCA can occur in non-syndromic and syndromic forms, where syndromic OCA coexists with additional systemic consequences...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35870188
DOI: 10.1002/jcla.24625
PMCID: PMC9459276

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