Article
Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2021
Li Liangshan, Jia Chenlu, Li Xiaole, Wang Fang, Wang Yangang, Chen Yanping, Liu Shiguo, Zhao Dehua
Abstract excerpt
BACKGROUND: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide, can be caused by variants in thyroid transcription factor (TTF) genes including NKX2-1, FOXE1, PAX8, NKX2-5 and HHEX. This study aims to perform targeted next-generation sequencing (NGS) panel for comprehensive mutation screening on these genes in a cohort of 606 CH patients with various types from Henan Province,...
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