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Article

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

American journal of medical genetics. Part A - 1 Apr 2014

Van Asbeck Ellyze, Wolthuis David F G J, Mohamed Miski, Wevers Ron A, Korenke Cristoph G, Gardeitchik Thatjana, Morava Eva

Abstract excerpt

Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of f...

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Source

Identifiers

PMID: 24459010
DOI: 10.1002/ajmg.a.36392

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24459010-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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