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Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.

Molecular genetics and genomics : MGG - 28 Feb 2024

Wu Xiangli, Tian Yuqing, Yu Yiqi, He Xujun, Tang Xiaohua, Li Shishi, Shu Jing, Guo Xiaoyan

Abstract excerpt

This study presents a case of a female infertile patient suffering from embryonic arrest and recurrent implantation failure. The primary objective was to assess the copy number variations (CNVs) and DNA methylation of her embryos. Genetic diagnosis was conducted by whole-exome sequencing and validated through Sanger sequencing. CNV evaluation of two cleavage stage embryos was performed using whole-genome...

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PMID: 38416203
DOI: 10.1007/s00438-024-02113-w

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