Ontology highlight
ABSTRACT:
SUBMITTER: Hosen MJ
PROVIDER: S-EPMC3820553 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Hosen Mohammad J MJ Hosen Mohammad J MJ Lamoen Anouck A De Paepe Anne A Vanakker Olivier M OM
Scientifica 20120725
Among ectopic mineralization disorders, pseudoxanthoma elasticum (PXE)-a rare genodermatosis associated with ocular and cardiovascular manifestations-is considered a paradigm disease. The symptoms of PXE are the result of mineralization and fragmentation of elastic fibers, the exact pathophysiology of which is incompletely understood. Though molecular analysis of the causal gene, ABCC6, has a high mutation uptake, a skin biopsy has until now been considered the golden standard to confirm the cli ...[more]