Work

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

Year: 2023

Type: article

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2022-108866

Authors: Feng-Yao Wu, Rui-Meng Yang, Hai-Yang Zhang, Ming Zhan, Ping-Hui Tu, Ya Fang, Cao-Xu Zhang, Shi-Yang Song, Mei Dong, Ren-Jie Cui, Xiao-Yu Liu, Liu Yang, Chen-Yan Yan, Feng Sun, Rui-Jia Zhang, Zheng Wang, Jun Liang, Huai-Dong Song, Feng Cheng, Shuang-Xia Zhao

Institutions: Shanghai Jiao Tong University, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Xuzhou Medical College, Xuzhou Central Hospital

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Innovative Research Team of High-level Local University in Shanghai, National Natural Science Foundation of China, Science and Technology Commission of Shanghai Municipality

Awards: G351951950, G4849168242, G4989758802, G4996387154, G7527382184, G7748369932

OpenAlex ID: W4323832026

FWCI: 1.426

Cites: 42

Cited by: 8

Related to: 10