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Variations in the Initial Presentation of a Rare Congenital Adrenal Hyperplasia: Steroidogenic Acute Regulatory Deficiency

Background: Steroidogenic Acute Regulatory (StAR) deficiency is a rare form of congenital adrenal hyperplasia characterized by dysregulated cholesterol transport mediated by StAR enzyme across mitochondrial membranes. Adrenal dysfunction is due to the two-hit hypothesis: 1) defective StAR protein an...

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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Saha, Priyanka, Hodax, Juanita, DiVall, Sara A, Kim, Grace, Huang, Alyssa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8265873/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.332
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