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Article

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Hormone research - 1 Jan 2005

Choi Jin-Ho, Shin Young-Lim, Kim Gu-Hwan, Kim Youngho, Park Sangwook, Park Jung-Young, Oh Changkyu, Yoo Han-Wook

Abstract excerpt

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC) is a condition clinically featuring adrenal insufficiency and hypogonadotropic hypogonadism caused by mutations of DAX-1. This study was undertaken to characterize the molecular defects of DAX-1 in 3 unrelated Korean patients with AHC. PATIENTS AND METHODS: Patient 1 is a 6-year-old boy who presented with a salt-losing adrenal crisis in the neonatal period....

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Source

Identifiers

PMID: 15860922
DOI: 10.1159/000085557

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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