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Article

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.

Endocrine - 1 Apr 2021

Li Liangshan, Liu Wenmiao, Zhang Liqin, Wang Fang, Wang Fengqi, Gu Maosheng, Wang Xiuli, Liu Shiguo

Abstract excerpt

BACKGROUND: Mutations in DUOX2 are the frequent cause of congenital hypothyroidism (CH), a common neonatal metabolic disorder characterized by great phenotypic variability. CH can be traditionally subclassified into two subtypes: thyroid dysgenesis (TD) and thyroid dyshormonogenesis. The objectives of this study were to analyze the genetic data of two familial CH cases, to elucidate the pathogenesis from the...

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PMID: 32803677
DOI: 10.1007/s12020-020-02437-8

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