Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.

Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia. Affected individuals can synthesize no steroid hormones, and hence are all phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. All previous studies have s...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Lin, D, Gitelman, S E, Saenger, P, Miller, W L
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1991
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295776/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1661294/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115520
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