Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc

Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in the gene encoding P450scc (CYP11A1), have been d...

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Bibliografiska uppgifter
Huvudupphovsmän: Kim, Chan Jong, Lin, Lin, Huang, Ningwu, Quigley, Charmian A., AvRuskin, Theodore W., Achermann, John C., Miller, Walter L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Endocrine Society 2008
Ämnen:
Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2266942/
https://ncbi.nlm.nih.gov/pubmed/18182448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-2330
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