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Article

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

Annals of laboratory medicine - 1 Jul 2024

Zhang Hai-Yang, Wu Feng-Yao, Li Xue-Song, Tu Ping-Hui, Zhang Cao-Xu, Yang Rui-Meng, Cui Ren-Jie, Wu Chen-Yang, Fang Ya, Yang Liu, Song Huai-Dong, Zhao Shuang-Xia

Abstract excerpt

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...

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Identifiers

PMID: 38433572
DOI: 10.3343/alm.2023.0337
PMCID: PMC10961619

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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