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Article

[Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of DAX-1 gene (pGly168fsX17)].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jun 2006

Pérez Rodríguez O, Ruibal Francisco J L, Loidi Fernández de Trocóniz L, Parajes Castro S, Martín Rojas-Marcos P

Abstract excerpt

Various genes play a role in the morphogenesis of the adrenal cortex, among them the DAX-1 gene. We report an 18-year-old man who showed complete adrenal failure in the neonatal period, hypogonadotropic hypogonadism and pathological short stature associated with a mutation of the DAX-1 gene that has not previously been described. The patient was admitted to hospital at the age of 16 days due to salt-losing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16792969
DOI: 10.1157/13089927

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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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[Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of DAX-1 gene (pGly168fsX17)].PMID 16792969Read ↗

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