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[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2022

Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiuli

Abstract excerpt

OBJECTIVE: To identify the causative variants in 13 Chinese pedigrees affected with oculocutaneous albinism (OCA) so as to provide genetic counseling and prenatal diagnosis to them. METHODS: Thirteen unrelated pedigrees with clinically diagnosed OCA were collected and classified based on the manifestation of skin and eyes. With informed consent obtained from the participants, peripheral blood samples were...

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PMID: 35076908
DOI: 10.3760/cma.j.cn511374-20210201-00100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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