subtypes of Ehlers-Danlos syndrome (EDS), depending on the location of variant (Kuivaniemi et al., 1988; Byers et al., 1997; Raff et al., 2000).
[frontiersin.org]
[…] splice-site mutations, multiexon duplication or deletion in COL1A2 has less been reported in classic OI cases but it may be linked to a wide array of clinical OI phenotypes or several
[frontiersin.org]