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Article

Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.

Annals of clinical biochemistry - 1 Nov 2008

Wheeler B, George P M, Mackenzie K, Hunt P, Potter H C, Florkowski C M

Abstract excerpt

Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome) are a well-recognized cause of congenital adrenal hypoplasia. DAX-1 is expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary, which gives rise to the clinical features of this deletion. Presentations are varied but salt-wasting and/or hypoglycaemia are the most common in an infant,...

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Share to Adrenal Hyperplasia, Congenital
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

Share to DNA-Binding Proteins

Share to Point Mutation

Share to Receptors, Retinoic Acid

Share to Repressor Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 18941128
DOI: 10.1258/acb.2008.008038

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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