Mutations in LAMA3, LAMC2, COL17A1, ITGA6, and ITGB4 are associated with the blistering skin disorder junctional epidermolysis bullosa and cause severe enamel hypoplasia, grooves and enamel pitting (McGrath et al., 1996; Wright, 2006; Murrell et al., 2007; Almaani et al., 2009; Kim et al., 2013; Wang et al., 2015; Gostynska et al., 2016). Here, COL17A1 is linked to junctional epidermolysis bullosa.