Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleThe pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.AuthorsSzeri, Flora; Miko, Agnes; Navasiolava, Nastassia; Kaposi, Ambrus; Verschuere, Shana; Molnar, Beatrix; Li, Qiaoli; Terry, Sharon F.; Boraldi, Federica; Uitto, Jouni; van de Wetering, Koen; Martin, Ludovic; Quaglino, Daniela; Vanakker, Olivier M.; Tory, Kalman; Aranyi, TamasPublicationHuman Mutation, 2022, Vol 43, Issue 12, p1872ISSN1059-7794Publication typeArticleDOI10.1002/humu.24498