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.