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Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Cells - 11 Jun 2024

Hjeij Rim, Leslie Joseph, Rizk Hoda, Dworniczak Bernd, Olbrich Heike, Raidt Johanna, Bode Sebastian Felix Nepomuk, Gardham Alice, Stals Karen, Al-Haggar Mohammad, Osman Engy, Crosby Andrew, Eldesoky Tarek, Baple Emma, Omran Heymut

Abstract excerpt

Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inversus and male infertility, mirroring the findings in Mns1-/- mice. Here, we present clinical and genomic findings in five newly identified individuals from four...

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Identifiers

PMID: 38920647
DOI: 10.3390/cells13121017
PMCID: PMC11202006

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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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