1. Nelson's Textbook of Pediatrics 2015 Elsevier Philadelphia JC Marini RM Kliegman BF Stanton JW St. Geme Osteogenesis imperfecta 3380 4
2. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
3. Genetic heterogeneity in osteogenesis imperfecta.
4. Molecular heterogeneity in osteogenesis imperfecta type I
5. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1);Cohn DH;Am J Hum Genet,1990