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  • Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway

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Genotype-phenotype correlations
Original research
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway

Authors

  • Feng-Yao Wu The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Rui-Meng Yang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Hai-Yang Zhang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Ming Zhan Department of Urology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Ping-Hui Tu The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Ya Fang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Cao-Xu Zhang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Shi-Yang Song The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Mei Dong The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Ren-Jie Cui The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Xiao-Yu Liu The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Liu Yang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Chen-Yan Yan The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Feng Sun The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Rui-Jia Zhang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Zheng Wang The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Jun Liang Department of Endocrinology, The Central Hospital of Xuzhou Affiliated to Xuzhou Medical College, Xuzhou, China PubMed articlesGoogle scholar articles
  • Huai-Dong Song The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  • Feng Cheng Department of Laboratory Medicine, Fujian Provincial Maternity and Children's Hospital, Fuzhou, China PubMed articlesGoogle scholar articles
  • Shuang-Xia Zhao The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, State Key Laboratory of Medical Genomics, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China PubMed articlesGoogle scholar articles
  1. Correspondence to Shuang-Xia Zhao, Shanghai Jiao Tong University School of Medicine Affiliated Ninth People's Hospital, Shanghai, China; zhaozhao1215{at}126.com; Professor Huai-Dong Song; huaidong_s1966{at}163.com; Dr Feng Cheng; fcheng99{at}126.com
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Citation

Wu F, Yang R, Zhang H, et al
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
Journal of Medical Genetics 2023;60:874-884.

Publication history

  • Received August 6, 2022
  • Accepted February 25, 2023
  • First published March 10, 2023.
Online issue publication 
October 18, 2023

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