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  • Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort

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Diagnostics
Original research
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort

Authors

  • Xiaohong Yan Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Jing Wang Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Wen Yang Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Linke Li Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Tian Shen Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Jia Geng Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Qian Zhang Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Mingjun Zhong Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Wenyu Xiong Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Fengxiao Bu Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Yu Lu Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Yu Zhao Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Jing Cheng Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Huijun Yuan Department of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jing Cheng, Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, 610041, China; chengjing{at}wchscu.cn; Dr Huijun Yuan; yuanhj301{at}163.com; Yu Zhao; yutzhao{at}VIP.163.com
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Citation

Yan X, Wang J, Yang W, et al
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort
Journal of Medical Genetics 2024;61:459-468.

Publication history

  • Received August 17, 2023
  • Accepted January 10, 2024
  • First published January 31, 2024.
Online issue publication 
April 19, 2024

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© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.