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Article

Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.

The British journal of dermatology - 1 Jul 2006

Christen-Zäch S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon R G, Hohl D

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disorder due to mutations in the gene encoding the transmembrane transporter protein adenosine triphosphate binding cassette (ABC)-C6, resulting in calcification of elastic fibres in the skin, eyes and cardiovascular system. OBJECTIVES: To evaluate the diagnostic criteria for PXE based on molecular data. METHODS: Of 10 families with a positive history of PXE...

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Identifiers

PMID: 16792757
DOI: 10.1111/j.1365-2133.2006.07278.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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