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Article

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.

Human mutation - 1 May 2005

Krone Nils, Riepe Felix Günther, Dörr Helmuth-Günther, Morlot Michel, Rudorff Karl-Heinz, Drop Stenvert L S, Weigel Johannes, Pura Mikulas, Kreze Alexander, Boronat Mauro, de Luca Filippo, Tiulpakov Anatoly, Partsch Carl-Joachim, Peter Michael, Sippell Wolfgang G

Abstract excerpt

X-linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency...

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PMID: 15841486
DOI: 10.1002/humu.9331

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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