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Article

Phenotypic spectrum of mutations in DAX-1 and SF-1.

Molecular and cellular endocrinology - 20 Dec 2001

Achermann J C, Meeks J J, Jameson J L

Abstract excerpt

SF-1 (steroidogenic factor-1) (NR5A1) and DAX-1 (dosage-sensitive sex-reversal, adrenal hypoplasia congenital, X chromosome) (NR0B1) are orphan nuclear receptors that are expressed in the adrenal gland, gonads, ventromedial hypothalamus (VMH), and pituitary gonadotrope cells. The function of these genes has been clarified by examining the consequences of naturally occurring mutations in humans, as well as...

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PMID: 11738790
DOI: 10.1016/s0303-7207(01)00619-0

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