Article
Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
Human reproduction (Oxford, England) - 19 Jul 2021
Dong Jie, Zhang Hong, Mao Xiaoyan, Zhu Junhua, Li Da, Fu Jing, Hu Jijun, Wu Ling, Chen Biaobang, Sun Yiming, Mu Jian, Zhang Zhihua, Sun Xiaoxi, Zhao Lin, Wang Wenjing, Wang Weijie, Zhou Zhou, Zeng Yang, Du Jing, Li Qiaoli, He Lin, Jin Li, Kuang Yanping, Wang Lei, Sang Qing
Abstract excerpt
STUDY QUESTION: Are any novel mutations and corresponding new phenotypes, other than recurrent hydatidiform moles, seen in patients with MEI1 mutations? SUMMARY ANSWER: We identified several novel mutations in MEI1 causing new phenotypes of early embryonic arrest and recurrent implantation failure. WHAT IS KNOWN ALREADY: It has been reported that biallelic mutations in MEI1, encoding meiotic double-stranded break...
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