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Article

X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.

Hormone research - 1 Jan 2009

Goto Masahiro, Katsumata Noriyuki

Abstract excerpt

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism (HHG) is caused by mutations of the DAX-1 gene. A novel intronic mutation of the gene and the results of in vitro expression analysis are reported. PATIENT AND METHODS: The patient is a 13-year-old boy who presented with severe dehydration and salt loss in the neonatal period, when he lacked cutaneous pigmentation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19129717
DOI: 10.1159/000183901

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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