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Article

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.

Journal of assisted reproduction and genetics - 1 Jan 2023

Li Yunhao, Li Yong, Wang Ying, Meng Lanlan, Tan Chen, Du Juan, Tan Yue-Qiu, Nie Hongchuan, Zhang Qianjun, Lu Guangxiu, Lin Ge, Li Huanzhu, Zhang Huan, Tu Chaofeng

Abstract excerpt

PURPOSE: The aim of this study is to identify the genetic cause of primary ciliary dyskinesia (PCD) and male infertility in two unrelated Han Chinese families. METHODS: We performed whole-exome sequencing in two unrelated male Han Chinese patients suffering from infertility and PCD to identify the pathogenic variants. Ultrastructural and immunostaining analyses of patient's spermatozoa were performed to...

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Identifiers

PMID: 36515799
DOI: 10.1007/s10815-022-02681-z
PMCID: PMC9840726

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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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