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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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| Veröffentlicht in: | Endocrinol Diabetes Metab Case Rep |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Bioscientifica Ltd
2016
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| Schlagworte: | |
| Online Zugang: | 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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