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Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient

Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. Th...

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Foilsithe in:Endocrinol Diabetes Metab Case Rep
Main Authors: Kaur, Jasmeet, Casas, Luis, Bose, Himangshu S
Formáid: Artigo
Teanga:Inglês
Foilsithe: Bioscientifica Ltd 2016
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4815279/
https://ncbi.nlm.nih.gov/pubmed/27047663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0119
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