TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Hai-Yang Zhang,
Feng-Yao Wu,
Xue-Song Li
et al.
Abstract:Background
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 bet… Show more
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