Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
EG Pfendner, OM Vanakker, SF Terry… - Journal of medical …, 2007 - jmg.bmj.com
Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with
considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system …
considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system …