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Article

A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.

Genetics and molecular research : GMR - 10 May 2007

Calliari L E P, Longui C A, Rocha M N, Faria C D C, Kochi C, Melo M R, Melo M B, Monte O

Abstract excerpt

Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptomatic during infancy. Molecular analysis was able to detect a novel mutation in exon 1 of...

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PMID: 17573657

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

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