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. 1994 Dec 15;372(6507):635-41.
doi: 10.1038/372635a0.

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

E Zanaria  1 , F Muscatelli, B Bardoni, T M Strom, S Guioli, W Guo, E Lalli, C Moser, A P Walker, E R McCabe, et al.
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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

E Zanaria et al. Nature. .

Abstract

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 DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.

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