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Article

An update on the ocular phenotype in patients with pseudoxanthoma elasticum

1 Jan 2013

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic laminae of blood vessels and Bruch's membrane in the eye. Biallelic mutations in the ATP-binding cassette (ABC) transporter gene ABCC6 on chromosome 16 are responsible for the disease. The pathophysiology is incompletely understood. However,...

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Identifiers

PMID: 23577018
DOI: 10.3389/fgene.2013.00014

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