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Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism

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Year: 2025
Type: article
Study design: Observational Study
Source: European Journal of Endocrinology
DOI: 10.1093/ejendo/lvaf123
Authors: Hai-Yang Zhang, Cao-Xu Zhang, Feng-Yao Wu, Chen-Yang Wu, Fei-Yang Zhang, Liu Yang, Yue Zhang, Huai-Dong Song, Shuang-Xia Zhao
Institutions: Shanghai Jiao Tong University, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Nantong University, Affiliated Hospital of Nantong University, Fujian Provincial 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: National Natural Science Foundation of China, Natural Science Foundation of Fujian Province, Shanghai Municipal Education Commission, National Key Research and Development Program of China
Awards: G2005593294, G3532333999, G3737206131, G3981174012, G4606627086, G4849168242, G4989758802, G7748369932, G8255839299
OpenAlex ID: W4411255255
FWCI: 3.634
Cites: 33
Cited by: 6
Related to: 10
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