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Article

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

The New England journal of medicine - 19 Dec 1996

Bose H S, Sugawara T, Strauss J F, Miller W L

Abstract excerpt

BACKGROUND: Congenital lipoid adrenal hyperplasia results in severe impairment of steroid biosynthesis in the adrenal glands and gonads that is manifested both in utero and postnatally. We recently found mutations in the gene for the steroidogenic acute regulatory protein in four patients with this syndrome, but it was not clear whether all patients have such mutations or why there is substantial clinical...

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Identifiers

PMID: 8948562
DOI: 10.1056/NEJM199612193352503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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