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Article

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.

Nature - 15 Dec 1994

Zanaria E, Muscatelli F, Bardoni B, Strom T M, Guioli S, Guo W, Lalli E, Moser C, Walker A P, McCabe E R

Abstract excerpt

X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor superfamily displaying a novel DNA-binding domain. The...

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Identifiers

PMID: 7990953
DOI: 10.1038/372635a0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.PMID 7990953Read ↗

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Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia CongenitaSemantic proximity Read ↗

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