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Article

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.

International journal of dermatology - 1 Jun 2014

Akoglu Gulsen, Li Qiaoli, Gokoz Ozay, Gazyagci Ali Serhan, Uitto Jouni

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a heritable ectopic mineralization disorder affecting cutaneous, ocular, and cardiovascular systems, caused by mutations in the ABCC6 gene. PXE presents with a marked clinical and genetic heterogeneity. Furthermore, heterozygous carriers may present with limited histopathological features. This study was conducted to investigate a patient with PXE and her family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23675997
DOI: 10.1111/ijd.12008
PMCID: PMC4007358

Genes

ABCC6

Provenance

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