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Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.

BMC pediatrics - 5 Dec 2023

Dong Lili, Zhang Lei, Li Xiao, Mei Shiyue, Shen Yuelin, Fu Libing, Zhao Shunying, Tang Xiaolei, Tang Yu

Abstract excerpt

BACKGROUND: The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. METHODS: A two-child family was recruited for the study. Clinical...

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Identifiers

PMID: 38053031
DOI: 10.1186/s12887-023-04185-w
PMCID: PMC10696777

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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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