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Article

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

American journal of medical genetics. Part A - 15 Jun 2005

Balsamo Antonio, Antelli Alessandra, Baldazzi Lilia, Baronio Federico, Lazareva Dina, Cassio Alessandra, Cicognani Alessandro

Abstract excerpt

We report on a DAX1 gene investigation in a patient with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in order to identify mutations causing this disorder and to confirm the clinical diagnosis. The description of the clinical course of the condition with a detailed documentation of longitudinal data is also reported. A male newborn was referred at 45 days of life because of...

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Identifiers

PMID: 15884018
DOI: 10.1002/ajmg.a.30689

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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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