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Article

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Clinical endocrinology - 1 Jan 1999

Bassett J H, O'Halloran D J, Williams G R, Beardwell C G, Shalet S M, Thakker R V

Abstract excerpt

OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita critical region on the X chromosome gene 1), which encodes a novel orphan nuclear receptor, have been identified in patients with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotrophic hypogonadism (HHG). We have investigated two kindreds with AHC and HHG for DAX1 mutations. METHODS: Two kindreds with five...

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Identifiers

PMID: 10341858
DOI: 10.1046/j.1365-2265.1999.00601.x

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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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