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Three unrelated female patients with different clinical types of osteogenesis imperfecta (OI) from the Clinic of Traumatology and Orthopedics, University of Tartu, Estonia (UT OI database) harboring the same pathogenic dominant negative variant c.2299G>A, p.Gly767Ser in the COL1A1 gene. Patients developed (a) type I, (b) type IV, and (c) type III of OI, supporting high interfamilial variability of this pathogenic variant.
