Project: Unravelling the molecular-genetic basis of herediatary disorders of elastin
- project duration
- 01-OCT-03 – 30-SEP-07
- Psaudoxanthoma Elasticum is an autosomal recessive multisystemic disease characterized by fragmentation and calcification of elastic fibers. This project aims, in collaboration with an international consortium, to gain better insights in skin, ocular and cardiovascular manifestations in patients and heterozygous carriers, both in classical PXE as in special phenotypes. The ABCC6 mutation spectrum will be studied in several PXE phenotypes.