Szeri F, Miko A, Navasiolava N, Kaposi A, et al. The 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. Hum Mutat 2022;43:1872-1881.
PMID: 36317459