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Article

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.

European journal of pediatrics - 1 Mar 2009

Ozer Esra Arun, Kaya Aysun, Yildirimer Munevver, Guler Ozlem, Can Sule, Aydinlioglu Halil

Abstract excerpt

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

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Source

Identifiers

PMID: 18604556
DOI: 10.1007/s00431-008-0778-y

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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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