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Article

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.

European journal of pediatrics - 1 Mar 2009

Yang Fan, Hanaki Keiichi, Kinoshita Tomoe, Kawashima Yuki, Nagaishi Jun-ichi, Kanzaki Susumu

Abstract excerpt

Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset adrenal hypoplasia congenita caused by the premature truncation of the C-terminus of the DAX-1...

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Source

Identifiers

PMID: 18607630
DOI: 10.1007/s00431-008-0779-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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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