Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

Abstract

Pseudoxanthoma elasticum (PXE, OMIM 264800) is an autosomal recessive disorder in which elastic fibers of skin, eyes, and cardiovascular system become progressively calcified, causing a spectrum of manifestations with a variable phenotype. The proposed prevalence of PXE is 1/25 000, but this might be an underestimate. PXE is associated with mutations in the ABCC6 (ATP binding cassette subtype C number 6) gene.

This article is protected by copyright. All rights reserved.