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Article

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Frontiers in endocrinology - 1 Jan 2021

Long Wei, Guo Fang, Yao Ruen, Wang Ying, Wang Huaiyan, Yu Bin, Xue Peng

Abstract excerpt

Background: The molecular etiology and the genotype-phenotype correlation of congenital hypothyroidism (CH) remain unclear. Methods: We performed genetic analysis in 42 newborns with CH using whole-exome sequencing. Patients were divided into a single-gene group and a multi-gene group according to the number of affected genes, or divided into a monoallelic group, a biallelic group, and an oligogenic group...

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Identifiers

PMID: 34539567
DOI: 10.3389/fendo.2021.705773
PMCID: PMC8446595

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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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