Article
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Clinical endocrinology - 1 Apr 2022
Zhang Rui-Jia, Yang Guang-Lin, Cheng Feng, Sun Feng, Fang Ya, Zhang Cao-Xu, Wang Zheng, Wu Feng-Yao, Zhang Jun-Xiu, Zhao Shuang-Xia, Liang Jun, Song Huai-Dong
Abstract excerpt
OBJECTIVE: Congenital hypothyroidism (CH) is known to be due to thyroid dyshormonogenesis (DH), which is mostly inherited in an autosomal recessive inheritance pattern or thyroid dysgenesis (TD), whose inheritance pattern is controversial and whose molecular etiology remains poorly understood. DESIGN AND METHODS: The variants in 37 candidate genes of CH, including 25 genes related to TD, were screened by targeted...
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