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Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.

Reproductive biology and endocrinology : RB&E - 28 Jan 2022

Li Peng, Ji Zhiyong, Zhi Erlei, Zhang Yuxiang, Han Sha, Zhao Liangyu, Tian Ruhui, Chen Huixing, Huang Yuhua, Zhang Jing, Chen Huirong, Zhao Fujun, Zhou Zhi, Li Zheng, Yao Chencheng

Abstract excerpt

BACKGROUND: Non-obstructive azoospermia (NOA) is one of the most severe type in male infertility, and the genetic causes of NOA with meiotic arrest remain elusive. METHODS: Four Chinese families with NOA participated in the study. We performed whole-exome sequencing (WES) for the four NOA-affected patients in four pedigrees. The candidate causative gene was further verified by Sanger sequencing. Hematoxylin and...

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Identifiers

PMID: 35090489
DOI: 10.1186/s12958-022-00900-x
PMCID: PMC8796546

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