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Article

A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.

Andrology - 1 Mar 2025

Shi Shengjia, Tang Xiangrong, Long Shunhua, Yang Jie, Wang Tianwei, Wang Hongmei, Hu Tingwenyi, Shi Juanzi, Huang Guoning, Qiao Sen, Lin Tingting

Abstract excerpt

BACKGROUND: Dysfunction of motile cilia, including respiratory cilia and sperm flagella, typically leads to primary ciliary dyskinesia and male infertility or low fertility in humans. Genetic defects of LRRC6 have been associated with primary ciliary dyskinesia and asthenozoospermia due to abnormal ultrastructure of ciliated axonemes. OBJECTIVES: To identify novel mutations of the LRRC6 gene related to multiple...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38934611
DOI: 10.1111/andr.13685

Genes

CCDC40
SPAG1
ZMYND10

Provenance

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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