Coordinated orphan disease research: yes, we can!
The molecular etiology is covered by reviews on the transcriptional regulation of the ABCC6 gene and the role of modifier genes in PXE, while a contribution on ENPP1 and the overlapping phenotype between PXE and Generalized Arterial Calcification of Infancy makes the transition to clinical papers on specific aspects of the PXE retinopathy and vasculopathy. β