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.

Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

Perazzolli, G;Girolomoni, G;Colato, C;
2018

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.
PXE; ABCC6; c.1220G>A; elastorrhexis; hemizygosis; pseudoxanthoma elasticum
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/976037
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