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  • Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest

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Original research
Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest

Authors

  • Wenjing Wang Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Jie Dong Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China Zhuhai Fudan Innovation Institute, Zhuhai, China PubMed articlesGoogle scholar articles
  • Biaobang Chen Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China NHC Key Lab of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Shanghai, China PubMed articlesGoogle scholar articles
  • Jing Du NHC Key Lab of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Shanghai, China PubMed articlesGoogle scholar articles
  • Yanping Kuang Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Xiaoxi Sun Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, Shanghai, China PubMed articlesGoogle scholar articles
  • Jing Fu Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, Shanghai, China PubMed articlesGoogle scholar articles
  • Bin Li Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Jian Mu Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zhihua Zhang Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zhou Zhou Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zhao Lin Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Ling Wu Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Zheng Yan Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Xiaoyan Mao Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Qiaoli Li Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Lin He Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China PubMed articlesGoogle scholar articles
  • Lei Wang Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China Zhuhai Fudan Innovation Institute, Zhuhai, China Human Phenome Institute, Fudan University, Shanghai, China PubMed articlesGoogle scholar articles
  • Qing Sang 1,2 Children's Hospital and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and School of Life Sciences, Fudan University, Shanghai, China Zhuhai Fudan Innovation Institute, Zhuhai, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Lei Wang; wangleiwanglei{at}fudan.edu.cn; Dr Qing Sang, Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China; sangqing{at}fudan.edu.cn
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Citation

Wang W, Dong J, Chen B, et al
Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
Journal of Medical Genetics 2020;57:187-194.

Publication history

  • Received June 16, 2019
  • Revised August 22, 2019
  • Accepted September 15, 2019
  • First published November 8, 2019.
Online issue publication 
February 20, 2020

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