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Article

Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2023

Zhang Ting, Shen Yaping, Xu Yanhua, Wu Dingwen, Chen Chi, Yang Rulai

Abstract excerpt

BACKGROUND: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder worldwide. However, the underlying etiology remains unclear in most patients. METHODS: The newborn screening was performed for TSH in dried blood spots. Serum TSH, T3, T4, free T3(FT3) and free T4 (FT4) were detected for the recalled children. High-throughput sequencing were applied to detect 29 known CH genes. The...

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Identifiers

PMID: 37390946
DOI: 10.1016/j.cca.2023.117459

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