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Article

Pseudoxanthoma elasticum.

The Journal of dermatology - 1 Oct 2002

Ohtani Toshio, Furukawa Fukumi

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations...

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Source

Identifiers

PMID: 12432991
DOI: 10.1111/j.1346-8138.2002.tb00190.x

Genes

ABCC6

Provenance

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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