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). The gene discussed is LAMC2; the disease is Junctional epidermolysis bullosa, Herlitz type.