COL7A1 and anemia (phenotype): For patient 10 (Tables 4, 5), two previously described pathogenic variants, c.2005C>T p.(Arg669*) [30] and c.553C>T p.(Arg185*) [20], were identified in COL7A1. The clinical picture showed erosions on the trunk and limbs, microstomia, ankyloglossia, digit fusions, and anemia.