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[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2020

Wang Shan, Li Bing, Chen Yafei, Zhou Zheng, Bao Ruiling

Abstract excerpt

OBJECTIVE: To detect variant of PIH1D3 gene in a Chinese pedigree affected with primary ciliary dyskinesia (PCD) and explore its genotype-relationship correlation. METHODS: PCD patients from the pedigree were analyzed. Ultrastructures of the cilia and flagella of the nasal mucosa were analyzed. DNA samples of the patients were sequenced. RESULTS: The proband and all other affected members of his pedigree had a...

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PMID: 32820521
DOI: 10.3760/cma.j.cn511374-20190722-00361

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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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