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TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2024-03-04 , DOI: 10.3343/alm.2023.0337 Hai-Yang Zhang 1 , Feng-Yao Wu 1 , Xue-Song Li 2 , Ping-Hui Tu 1 , Cao-Xu Zhang 1 , Rui-Meng Yang 1 , Ren-Jie Cui 1 , Chen-Yang Wu 1 , Ya Fang 1 , Liu Yang 1 , Huai-Dong Song 1 , Shuang-Xia Zhao 1
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2024-03-04 , DOI: 10.3343/alm.2023.0337 Hai-Yang Zhang 1 , Feng-Yao Wu 1 , Xue-Song Li 2 , Ping-Hui Tu 1 , Cao-Xu Zhang 1 , Rui-Meng Yang 1 , Ren-Jie Cui 1 , Chen-Yang Wu 1 , Ya Fang 1 , Liu Yang 1 , Huai-Dong Song 1 , Shuang-Xia Zhao 1
Affiliation
Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype-phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes.
更新日期：2024-03-04
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