Project: Study of the cardiovascular phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticum.

2013-10-01 – 2028-09-30

Abstract

Pseudoxanthoma elasticum (PXE) is characterized by skin, ocular and cardiovascular manifestations, based on mineralization of elastic fibres. This project aims i) to gain insight in the cellular mechanisms leading to ectopic mineralization, ii) a comprehensive study of the cardiovascular phenotype of patients and their family and iii) to identify of modifier genes to optimize the follow-up of patients.