A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical...

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Bibliographic Details
Main Authors: Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Format: Article
Language:English
Published: Bioscientifica 2018-03-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0003

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