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  • UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression

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Developmental defects
Original research
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression

Authors

  • Xueqian Wang Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Medical Genetics and Prenatal Diagnosis, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China PubMed articlesGoogle scholar articles
  • Bingyu Yang Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Shengnan Wu Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, Shanghai, China PubMed articlesGoogle scholar articles
  • Qisang Fan Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Qing Wang Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Dandan Zhang Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Hongying Wang Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Tao Feng Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Haitao Lv Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Cardiology, Children's Hospital of Soochow University, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  • Ting Chen Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, Jiangsu, China Department of Pediatrics, Kunshan Sixth People's Hospital, Suzhou, Jiangsu, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Ting Chen; chenting888{at}suda.edu.cn
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Citation

Wang X, Yang B, Wu S, et al
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
Journal of Medical Genetics 2024;61:1089-1095.

Publication history

  • Received April 21, 2024
  • Accepted September 25, 2024
  • First published October 4, 2024.
Online issue publication 
November 25, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.