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Article

A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.

Molecular human reproduction - 1 Sept 2021

Cao Dandan, Shi Fu, Guo Chenxi, Liu Ye, Lin Zexiong, Zhang Juanhui, Li Raymond Hang Wun, Yao Yuanqing, Liu Kui, Ng Ernest Hung Yu, Yeung William Shu Biu, Wang Tianren

Abstract excerpt

Nonobstructive azoospermia (NOA) and diminished ovarian reserve (DOR) are two disorders that can lead to infertility in males and females. Genetic factors have been identified to contribute to NOA and DOR. However, the same genetic factor that can cause both NOA and DOR remains largely unknown. To explore the candidate pathogenic gene that causes both NOA and DOR, we conducted whole-exome sequencing (WES) in a...

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PMID: 34515795
DOI: 10.1093/molehr/gaab058

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