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Article

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

American journal of medical genetics. Part A - 15 Apr 2008

Graul-Neumann Luitgard M, Hausser Ingrid, Essayie Maximilian, Rauch Anita, Kraus Cornelia

Abstract excerpt

Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. Only seven ADCL families with mutations in the elastin gene (ELN) have been described previously. We present morphological and molecular genetic studies in a cutis laxa kindred with a prev...

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Source

Identifiers

PMID: 18348261
DOI: 10.1002/ajmg.a.32242

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18348261-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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