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Article

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2007

Martin L, Chassaing N, Delaite D, Estève E, Maître F, Le Bert M

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is related to mutations in the ABCC6 gene and characterized pathologically by dystrophic and mineralized elastic fibres. Heterozygote carriers of ABCC6 mutations may have a limited PXE phenotype. OBJECTIVE: To compare histological changes in the skin of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17309461
DOI: 10.1111/j.1468-3083.2006.01940.x

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17309461-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.PMID 17309461Read ↗

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