The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort

Bergen, 2006, Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth, J. Invest. Dermatol., 126, 704, 10.1038/sj.jid.5700129

Bergen, 2000, Mutations in ABCC6 cause pseudoxanthoma elasticum, Nat. Genet., 25, 228, 10.1038/76109

Boomsma, 2014, The Genome of The Netherlands: design, and project goals, Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.), 22, 221, 10.1038/ejhg.2013.118

Chassaing, 2005, Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations, J. Med. Genet., 42, 881, 10.1136/jmg.2004.030171

Costrop, 2010, Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region, J. Hum. Genet., 55, 112, 10.1038/jhg.2009.132

Hornstrup, 2011, Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease, Circ. Cardiovasc. Genet., 4, 534, 10.1161/CIRCGENETICS.110.958801

Hu, 2003, Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum, Invest. Ophthalmol. Vis. Sci., 44, 1824, 10.1167/iovs.02-0981

Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057

Nitschke, 2012, Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6, Am. J. Hum. Genet., 90, 25, 10.1016/j.ajhg.2011.11.020

Plomp, 2004, Does autosomal dominant pseudoxanthoma elasticum exist?, Am. J. Med. Genet., 126a, 403, 10.1002/ajmg.a.20632

Plomp, 2009, Pseudoxanthoma elasticum: wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6, Genet. Med. : offic. J. Am. Coll. Med. Gen., 11, 852, 10.1097/GIM.0b013e3181c00a96

Plomp, 2010, Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings, Am. J. Med. Genet., 152a, 1049, 10.1002/ajmg.a.33329

Simons, 1999, Second manifestations of ARTerial disease (SMART) study: rationale and design, Eur. J. Epidemiol., 15, 773, 10.1023/A:1007621514757

Struk, 1997, Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1, Hum. Mol. Genet., 6, 1823, 10.1093/hmg/6.11.1823

Uitto, 2013, Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting, J. Invest. Dermatol., 133, 1444, 10.1038/jid.2013.20

Uitto, 2017, Insights into pathomechanisms and treatment development in heritable ectopic mineralization disorders: summary of the PXE international biennial research Symposium-2016, J. Invest. Dermatol., 137, 790, 10.1016/j.jid.2016.12.014

van Rooij, 2017, Population-specific genetic variation in large sequencing data sets: why more data is still better, Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.), 25, 1173, 10.1038/ejhg.2017.110