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Article

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

The Journal of clinical investigation - 1 Mar 2012

Hughes Claire R, Guasti Leonardo, Meimaridou Eirini, Chuang Chen-Hua, Schimenti John C, King Peter J, Costigan Colm, Clark Adrian J L, Metherell Louise A

Abstract excerpt

An interesting variant of familial glucocorticoid deficiency (FGD), an autosomal recessive form of adrenal failure, exists in a genetically isolated Irish population. In addition to hypocortisolemia, affected children show signs of growth failure, increased chromosomal breakage, and NK cell deficiency. Targeted exome sequencing in 8 patients identified a variant (c.71-1insG) in minichromosome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22354170
DOI: 10.1172/JCI60224
PMCID: PMC3287227

Genes

MCM4
GATA4
MCM2

Variants

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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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.PMID 22354170Read ↗

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