Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. Affected individuals can present with a phenotype of late onset adrenal insufficiency with o...

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Hlavní autoři: Sahakitrungruang, Taninee, Soccio, Raymond E., Lang-Muritano, Mariarosaria, Walker, Joanna M., Achermann, John C., Miller, Walter L.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Endocrine Society 2010
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928910/
https://ncbi.nlm.nih.gov/pubmed/20444910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-0437
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