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Article

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

The Journal of investigative dermatology - 1 Mar 2010

Uitto Jouni, Li Qiaoli, Jiang Qiujie

Abstract excerpt

Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The classic forms of PXE are due to loss-of-function mutations in th...

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Source

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Identifiers

PMID: 20032990
DOI: 10.1038/jid.2009.411
PMCID: PMC3349438

Genes

ABCC6
MGP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20032990-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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