You are here

Article info

Article menu
Download PDFPDF
Genotype-phenotype correlations
Original research
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy

Authors

  • Yunqi He Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, Sichuan, China Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China University of Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Mu Yang Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Rulian Zhao Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Li Peng Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Erkuan Dai Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Lulin Huang Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Peiquan Zhao Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Shujin Li Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Zhenglin Yang Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, Sichuan, China Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Department of Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China University of Chinese Academy of Sciences, Beijing, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Zhenglin Yang, Sichuan Provincial People's Hospital, Chengdu, Sichuan, People's Republic of China; zliny{at}yahoo.com; Dr Shujin Li, Sichuan Provincial People's Hospital, Chengdu, Sichuan, People's Republic of China; lishujin91{at}126.com; Dr Peiquan Zhao, Xinhua Hospital, Shanghai, People's Republic of China; zhaopeiquan{at}126.com
View Full Text

Citation

He Y, Yang M, Zhao R, et al
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
Journal of Medical Genetics 2023;60:174-182.

Publication history

  • Received October 7, 2021
  • Accepted March 12, 2022
  • First published March 31, 2022.
Online issue publication 
June 15, 2023

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

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