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Article

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

The British journal of dermatology - 1 Jun 2021

Li D, Ryu E, Saeidian A H, Youssefian L, Oliphant E, Terry S F, Tong P L, Uitto J, Haass N K, Li Q

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, eyes and the cardiovascular system. The classic forms of PXE are caused by mutations in the ABCC6 gene encoding the ABCC6 protein, expressed primarily in the liver. Cutis laxa (CL) manifests with loose and sagging skin with loss of recoil. In 2009 we...

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Identifiers

PMID: 33000479
DOI: 10.1111/bjd.19576
PMCID: PMC8935359

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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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