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Article

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal of cellular and molecular medicine - 1 Sept 2021

Xiong Ying, Xia Hong, Yuan Lamei, Deng Sheng, Ding Zerui, Deng Hao

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a group of genetically and clinically heterogeneous disorders with motile cilia dysfunction. It is clinically characterized by oto-sino-pulmonary diseases and subfertility, and half of the patients have situs inversus (Kartagener syndrome). To identify the genetic cause in a Han-Chinese pedigree, whole-exome sequencing was conducted in the 37-year-old proband, and then, Sanger...

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Identifiers

PMID: 34405951
DOI: 10.1111/jcmm.16866
PMCID: PMC8435457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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