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Article

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Human mutation - 1 Apr 2011

Callewaert Bert, Renard Marjolijn, Hucthagowder Vishwanathan, Albrecht Beate, Hausser Ingrid, Blair Edward, Dias Cristina, Albino Alice, Wachi Hiroshi, Sato Fumiaki, Mecham Robert P, Loeys Bart, Coucke Paul J, De Paepe Anne, Urban Zsolt

Abstract excerpt

Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous mutations: c.2296_2299dupGCAG (CL-1), c.2333delC (CL-2), c.2137delG (CL-3), c.2262delA (monozygotic twin CL-4 and...

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Source

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Identifiers

PMID: 21309044
DOI: 10.1002/humu.21462
PMCID: PMC3383654

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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