Article
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
Journal of medical genetics - 1 Sept 2023
Wu Feng-Yao, Yang Rui-Meng, Zhang Hai-Yang, Zhan Ming, Tu Ping-Hui, Fang Ya, Zhang Cao-Xu, Song Shi-Yang, Dong Mei, Cui Ren-Jie, Liu Xiao-Yu, Yang Liu, Yan Chen-Yan, Sun Feng, Zhang Rui-Jia, Wang Zheng, Liang Jun, Song Huai-Dong, Cheng Feng, Zhao Shuang-Xia
Abstract excerpt
BACKGROUND: In several countries, thyroid dyshormonogenesis is more common than thyroid dysgenesis in patients with congenital hypothyroidism (CH). However, known pathogenic genes are limited to those directly involved in hormone biosynthesis. The aetiology and pathogenesis of thyroid dyshormonogenesis remain unknown in many patients. METHODS: To identify additional candidate pathogenetic genes, we performed...
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