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Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients.

The Journal of steroid biochemistry and molecular biology - 1 Jun 2020

Chen Hong, Zhang Qianru, Chen Ruimin, Yuan Xin, Lin Xiangquan, Yang Xiaohong, Zhang Ying

Abstract excerpt

Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzymatic defects in steroid synthesis. Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of CAH, insofar as the initial step of steroid synthesis is impaired. Variants in the steroid acute regulatory (STAR) gene are responsible for LCAH. To describe the clinical and genetic characteristics...

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Adrenal Hyperplasia, Congenital
Asian People
Cholesterol
Disorder of Sex Development, 46,XY
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoproteins

Steroidogenic Acute Regulatory Protein

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PMID: 32068072
DOI: 10.1016/j.jsbmb.2020.105635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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