Article
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Frontiers in endocrinology - 1 Jan 2021
Zhang Cao-Xu, Zhang Jun-Xiu, Yang Liu, Zhang Chang-Run, Cheng Feng, Zhang Rui-Jia, Fang Ya, Wang Zheng, Wu Feng-Yao, Li Pei-Zhang, Liang Jun, Li Rui, Song Huai-Dong
Abstract excerpt
Background and Objectives: Defects in the human sodium/iodide symporter (SLC5A5) gene have been reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC5A5 mutations in Chinese patients with CH and to evaluate the function of the mutation. Methods: Two hundred and seventy-three patients with primary CH were screened for mutations in SLC5A5 using next-generation sequencing. We...
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