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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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Detalles Bibliográficos
Publicado en:Endocrinol Diabetes Metab Case Rep
Autores principales: Kaur, Jasmeet, Casas, Luis, Bose, Himangshu S
Formato: Artigo
Lenguaje:Inglês
Publicado: Bioscientifica Ltd 2016
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Acceso en línea: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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