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Article

Does autosomal dominant pseudoxanthoma elasticum exist?

American journal of medical genetics. Part A - 1 May 2004

Plomp Astrid S, Hu Xiaofeng, de Jong Paulus T V M, Bergen Arthur A B

Abstract excerpt

UNLABELLED: Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. It is caused by mutations in the ABCC6 gene. Most patients are sporadic cases. The majority of familial cases show autosomal recessive (AR) inheritance, but autosomal dominant...

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Source

Identifiers

PMID: 15098239
DOI: 10.1002/ajmg.a.20632

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15098239-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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