Article
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Molecular medicine reports - 1 Jul 2020
Wang Huijuan, Kong Xiaohong, Pei Yanrui, Cui Xuemei, Zhu Yijie, He Zixuan, Wang Yanxia, Zhang Lirong, Zhuo Lixia, Chen Chao, Yan Xiaoli
Abstract excerpt
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder with a genetic origin. The purpose of the present study was to analyze the mutation spectrum of CH patients in China. A targeted next‑generation sequencing panel covering all exons of 29 CH‑related causative genes was used in 43 Han Chinese patients with CH [11 dysgenesis and 32 glands in situ (GIS)]. The functional impact and...
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