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Article

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Archives of dermatology - 1 Sept 2004

Rodriguez-Revenga Laia, Iranzo Pilar, Badenas Cèlia, Puig Susana, Carrió Ana, Milà Montserrat

Abstract excerpt

BACKGROUND: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal...

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Identifiers

PMID: 15381555
DOI: 10.1001/archderm.140.9.1135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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