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Article

Clinical and genetic investigation in patients with permanent congenital hypothyroidism.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2023

Zhou Lingna, Liu Shuang, Long Wei, Wang Lei-Lei, Yu Bin

Abstract excerpt

BACKGROUND: Permanent congenital hypothyroidism (CH) is usually a more severe type of CH. However, the molecular etiology and clinical features of permanent CH remain unclear. METHODS: We recruited 42 patients who were diagnosed with CH and followed-up after diagnosis. Demographic information and data at diagnosis and treatment were recorded. Genetic analyses were performed using whole exome sequencing. Based on...

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PMID: 36423704
DOI: 10.1016/j.cca.2022.11.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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