Article
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Frontiers in endocrinology - 1 Jan 2021
Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yueyue
Abstract excerpt
Purpose: Congenital hypothyroidism (CH) is the most common neonatal endocrine disease; its early detection ensures successful treatment and prevents complications. However, its molecular etiology remains unclear. Methods: We used second-generation sequencing to detect 28 pathogenic genes in 15 Chinese Han patients with CH in Shenzhen, China, and analyzed the genetic pattern of the pathogenic genes through their...
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