Article
Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.
BMC medical genomics - 19 Jun 2022
Huang Yuhua, Tian Ruhui, Xu Junwei, Ji Zhiyong, Zhang Yuxiang, Zhao Liangyu, Yang Chao, Li Peng, Zhi Erlei, Bai Haowei, Han Sha, Luo Jiaqiang, Zhao Jingpeng, Zhang Jing, Zhou Zhi, Li Zheng, Yao Chencheng
Abstract excerpt
BACKGROUND: Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown. METHODS: Two Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA. Sanger sequencing and CNV array were used to ascertain the WES results....
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