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Article

Genotype-phenotype correlation in pseudoxanthoma elasticum.

Atherosclerosis - 1 May 2021

Bartstra Jonas W, Risseeuw Sara, de Jong Pim A, van Os Bram, Kalsbeek Lianne, Mol Chris, Baas Annette F, Verschuere Shana, Vanakker Olivier, Florijn Ralph J, Hendrikse Jeroen, Mali Willem, Imhof Saskia, Ossewaarde-van Norel Jeannette, van Leeuwen Redmer, Spiering Wilko

Abstract excerpt

BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs. METHODS: ABCC6 sequencing was performed in 289 PXE patients. Genotypes were...

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Identifiers

PMID: 33812167
DOI: 10.1016/j.atherosclerosis.2021.03.012

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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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