Article
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.
American journal of medical genetics. Part A - 1 Jan 2022
Li Miaomiao, Tian Weibing, Wang Fengqi, Yang Chengyu, Zhang Lu, Tang Qian, Liu Shiguo, Wang Fang
Abstract excerpt
Thyroid dysgenesis (TD) accounts for 80% cases of congenital hypothyroidism, which is the most common neonatal disorder. Until now, the gene mutations have been reported associated with TD can only account for 5% cases, suggesting the genetic heterogeneity of the pathology. Nicotinamide nucleotide transhydrogenase (NNT) plays a crucial role in regulating redox homeostasis, patients carrying NNT mutations have...
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