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Article

[Analysis of a child with Oculocutaneous albinism due to compound heterozygous variants of OCA2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Zheng Shuqi, Zhao Xiangyu, Liu Kai, Xu Hongyan, Gao Wei

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Oculocutaneous albinism (OCA). METHODS: A child diagnosed with OCA at Linyi People's Hospital in December 2020 was selected as study subject. Clinical data were retrospectively analyzed. Whole exome sequencing (WES) was carried out for the child. Based on WES data, potential pathogenic variants and copy number variation (CNV) were screened. Candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42091198
DOI: 10.3760/cma.j.cn511374-20250830-00518

Genes

OCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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