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
Autores principales: Kaur, Jasmeet, Casas, Luis, Bose, Himangshu S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2016
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815279/
https://www.ncbi.nlm.nih.gov/pubmed/27047663
http://dx.doi.org/10.1530/EDM-15-0119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815279/
https://www.ncbi.nlm.nih.gov/pubmed/27047663
http://dx.doi.org/10.1530/EDM-15-0119

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