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Article

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2009

Plomp Astrid S, Bergen Arthur A B, Florijn Ralph J, Terry Sharon F, Toonstra Johan, van Dijk Marijke R, de Jong Paulus T V M

Abstract excerpt

PURPOSE: : Pseudoxanthoma elasticum is an autosomal recessive disorder of elastic tissue in the skin, eyes, and cardiovascular system, caused by mutations in the ABCC6 gene. The purpose of this study was to check variability in expression within one genotype and look for pseudoxanthoma elasticum...

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Source

Identifiers

PMID: 19904211
DOI: 10.1097/GIM.0b013e3181c00a96

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19904211-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.PMID 19904211Read ↗

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Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.Semantic proximity Read ↗

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

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Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.Semantic proximity Read ↗

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