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Article

Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.

Hormone research - 1 Jan 2006

Ostermann Sandrine, Salvi Roberto, Lang-Muritano Mariarosaria, Voirol Marie-Jeanne, Puttinger Rudolf, Gaillard Rolf C, Schoenle Eugen, Pralong François P

Abstract excerpt

BACKGROUND: Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected fetuses are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. METHODS: We describe the familial transmission of AHC over several generations. The proband was diagnosed with adrenal insufficiency at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Retinoic Acid

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Source

Identifiers

PMID: 16514244
DOI: 10.1159/000091831

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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