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Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.

Endokrynologia Polska - 1 Jan 2020

Li Miaomiao, Wang Fang, Wang Xiuli, Zang Yucui, Liu Wenmiao, Wang Fengqi, Zhang Lu, Tang Qian, Liu Shiguo, Zhao Dehua

Abstract excerpt

INTRODUCTION: Thyroid dysgenesis (TD) is the main cause of congenital hypothyroidism (CH), affecting nearly 1 in 2000-3000 newborns worldwide, as the most common neonatal endocrine disorder. Paired box gene 8 (PAX8), expressed during all stages of thyroid follicular cell, plays a key role in thyroid morphogenesis by a complex regulatory network. In conclusion, the genetic mechanism of PAX8 mutant in TD is still...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32096550
DOI: 10.5603/EP.a2020.0004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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