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Article

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

The Journal of investigative dermatology - 1 Mar 2009

Li Qiaoli, Grange Dorothy K, Armstrong Nicole L, Whelan Alison J, Hurley Maria Y, Rishavy Mark A, Hallgren Kevin W, Berkner Kathleen L, Schurgers Leon J, Jiang Qiujie, Uitto Jouni

Abstract excerpt

A characteristic feature of classic pseudoxanthoma elasticum (PXE), an autosomal recessive disorder caused by mutations in the ABCC6 gene, is aberrant mineralization of connective tissues, particularly the elastic fibers. Here, we report a family with PXE-like cutaneous features in association wi...

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Source

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Identifiers

PMID: 18800149
DOI: 10.1038/jid.2008.271
PMCID: PMC2900916

Genes

GGCX
ABCC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18800149-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.PMID 18800149Read ↗

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.Semantic proximity Read ↗

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.Semantic proximity Read ↗

Pseudoxanthoma elasticum-like phenotypes: more diseases than one.Semantic proximity Read ↗

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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.Semantic proximity Read ↗

Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.Semantic proximity Read ↗

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.Semantic proximity Read ↗

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1geneSemantic proximity Read ↗

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?Semantic proximity Read ↗

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Semantic proximity Read ↗

The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.Semantic proximity Read ↗

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.Semantic proximity Read ↗

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