Condition: Pseudoxanthoma Elasticum, Incomplete


rs72650700 in ABCC6 gene and Pseudoxanthoma Elasticum, Incomplete PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 11439001 2001 Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

PMID 22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.