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Article

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

Journal of medical genetics - 1 Mar 2006

Szabo Z, Crepeau M W, Mitchell A L, Stephan M J, Puntel R A, Yin Loke K, Kirk R C, Urban Z

Abstract excerpt

BACKGROUND: Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement. OBJECTIVE: To report a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16085695
DOI: 10.1136/jmg.2005.034157
PMCID: PMC2563239

Genes

ELN

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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