Article
Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
The Journal of clinical endocrinology and metabolism - 1 Sept 2010
Li Na, Liu Ruya, Zhang Huijie, Yang Jun, Sun Shouyue, Zhang Manna, Liu Yuejun, Lu Yan, Wang Wei, Mu Yiming, Ning Guang, Li Xiaoying
Abstract excerpt
CONTEXT: DAX1 (for dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on the X chromosome, gene 1; also called NROB1) mutations are responsible for adrenal failure and hypogonadotropic hypogonadism in patients with adrenal hypoplasia congenita (AHC), through a loss of trans-repression of SF-1 (for steroidogenic factor-1)-mediated StAR (for steroidogenic acute regulatory protein) and...
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