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Article

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.

Clinical genetics - 1 Jan 2021

Beyens Aude, Boel Annekatrien, Symoens Sofie, Callewaert Bert

Abstract excerpt

Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, or cellular metabolism. Due to the underlying clinical and molecular heterogeneity, the...

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Identifiers

PMID: 33058140
DOI: 10.1111/cge.13865

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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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