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Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
Wu, Feng-Yao; Yang, Rui-Meng; Zhang, Hai-Yang; Zhan, Ming; Tu, Ping-Hui; Fang, Ya; Zhang, Cao-Xu; Song, Shi-Yang; Dong, Mei; Cui, Ren-Jie; Liu, Xiao-Yu; Yang, Liu; Yan, Chen-Yan; Sun, Feng; Zhang, Rui-Jia; Wang, Zheng; Liang, Jun; Song, Huai-Dong; Cheng, Feng; Zhao, Shuang-Xia.
Affiliation
  • Wu FY; 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.
  • Yang RM; 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.
  • Zhang HY; 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.
  • Zhan M; Department of Urology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Tu PH; 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.
  • Fang Y; 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.
  • Zhang CX; 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.
  • Song SY; 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.
  • Dong M; 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.
  • Cui RJ; 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.
  • Liu XY; 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.
  • Yang L; 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.
  • Yan CY; 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.
  • Sun F; 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.
  • Zhang RJ; 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.
  • Wang Z; 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.
  • Liang J; Department of Endocrinology, The Central Hospital of Xuzhou Affiliated to Xuzhou Medical College, Xuzhou, China.
  • Song HD; 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 zhaozhao1215@126.com huaidong_s1966@163.c
  • Cheng F; Department of Laboratory Medicine, Fujian Provincial Maternity and Children's Hospital, Fuzhou, China zhaozhao1215@126.com huaidong_s1966@163.com fcheng99@126.com.
  • Zhao SX; 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 zhaozhao1215@126.com huaidong_s1966@163.c
J Med Genet ; 60(9): 874-884, 2023 09.
Article in En | MEDLINE | ID: mdl-36898841
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Full text: 1 Database: MEDLINE Main subject: Congenital Hypothyroidism Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: China
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Full text: 1 Database: MEDLINE Main subject: Congenital Hypothyroidism Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: China