Article
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Steroids - 1 Apr 2016
Huang Zhuo, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Yu Yongguo, Liang Lili, Gong Zhuwen, Gu Xuefan
Abstract excerpt
Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder caused by defective synthesis of all steroids. This disorder is characterized by 46,XY sex reversal, skin hyperpigmentation, early-onset adrenal crisis and enlarged adrenal with fatty accumulation. CLAH is caused by mutations in the STAR gene. The clinical features and STAR gene mutation spectrum of a large cohort of Chinese...
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