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Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.

Human genetics - 1 Aug 2022

Chen Weicheng, Zhang Yuan, Shen Libing, Zhu Jialiang, Cai Ke, Lu Zhouping, Zeng Weijia, Zhao Jianyuan, Zhou Xiangyu

Abstract excerpt

Defective left-right (LR) pattering results in a spectrum of laterality disorders including situs inversus totalis (SIT) and heterotaxy syndrome (Htx). Approximately, 50% of patients with primary ciliary dyskinesia (PCD) displayed SIT. Recessive variants in DNAH9 have recently been implicated in patients with situs inversus. Here, we describe six unrelated family trios and 2 sporadic patients with laterality...

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PMID: 35050399
DOI: 10.1007/s00439-021-02426-5

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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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