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Article

Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.

Asian journal of andrology - 1 Mar 2025

Bai Hao-Wei, Li Na, Zhang Yu-Xiang, Luo Jia-Qiang, Tian Ru-Hui, Li Peng, Huang Yu-Hua, Bai Fu-Rong, Deng Cun-Zhong, Zhao Fu-Jun, Mo Ren, Chi Ning, Zhou Yu-Chuan, Li Zheng, Yao Chen-Cheng, Zhi Er-Lei

Abstract excerpt

ABSTRACT: Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39789727
DOI: 10.4103/aja202495
PMCID: PMC11949460

Genes

MCMDC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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