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Novel disease loci
Original research
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects

Authors

  • Fanlei Meng State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China University of the Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Xin Li State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Jinlu Zhang School of Basic Medical Sciences, Peking University, Beijing, China PubMed articlesGoogle scholar articles
  • Zhiyang Gao State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Xue Yang State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China University of the Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Ziqi Liu State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China University of the Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Yajie Liu State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China University of the Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Tong Guo Department of Ophthalmology, Peking University Third Hospital, Beijing, China PubMed articlesGoogle scholar articles
  • Likun Wang Institute of Systems Biomedicine, Peking University Health Science Centre, Beijing, China PubMed articlesGoogle scholar articles
  • Liping Yang Department of Ophthalmology, Peking University Third Hospital, Beijing, China PubMed articlesGoogle scholar articles
  • Zhaohui Wang State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China University of the Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Zhaohui Wang, Beijing, China; zhwang{at}genetics.ac.cn; Dr Liping Yang; alexlipingyang{at}bjmu.edu.cn
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Citation

Meng F, Li X, Zhang J, et al
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects
Journal of Medical Genetics 2023;60:655-661.

Publication history

  • Received February 14, 2022
  • Accepted October 19, 2022
  • First published November 29, 2022.
Online issue publication 
June 21, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.