Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum Ghent University
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive ectopic mineralization disorder, has become more complex as mutations in multiple genes - ABCC6, ENPP1 and GGCX - can cause similar phenotypes. Further, PXE shows important clinical variability, with growing importance of modifier genes. Thus, often multiple genes need to be screened in a patient. Next Generation Sequencing, including whole exome sequencing (WES), ...