These include Ehlers-Danlos syndrome type VI for LH1 (Steinmann et al., 1993; Yeowell and Walker, 2000), Bruck syndrome for LH2 (Ha-Vinh et al., 2004; van der Slot et al., 2003) and a severe connective tissue disorder whose features overlap with known collagen disorders for LH3 (Salo et al., 2008). Here, PLOD1 is linked to connective tissue disorder.