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Article

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Experimental dermatology - 1 Jan 2009

Li Qiaoli, Jiang Qiujie, Pfendner Ellen, Váradi András, Uitto Jouni

Abstract excerpt

Pseudoxanthoma elasticum (PXE), a prototype of heritable multisystem disorders, is characterised by pathologic mineralisation of connective tissues, with primary clinical manifestations in the skin, eyes and the cardiovascular system. The causative gene was initially identified as ABCC6 which encodes an ABC transporter protein (ABCC6) expressed primarily in the liver and the kidneys. The critical role of ABCC6 in...

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Source

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Identifiers

PMID: 19054062
DOI: 10.1111/j.1600-0625.2008.00795.x
PMCID: PMC3349969

Genes

ABCC6
GGCX
MGP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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