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Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16:101-116.","DOI":"10.1136\/jmg.16.2.101"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Byers PH, Cole WJ. Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects (Royce York, USA, 2002; pp. 385-430.","DOI":"10.1002\/0471221929.ch8"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004; 363:1377-1385.","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Marini JC, Forlino A, Cabral WA, <i>et al<\/i>. 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. Hum Mutat. 2007; 28:209-221.","DOI":"10.1002\/humu.20429"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: Diagnostic yield and mutation spectrum. Osteoporos Int. 2016; 27:3607-3613.","DOI":"10.1007\/s00198-016-3709-1"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77:31-37.","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Holmes DF, Watson RB, Steinmann B, Kadler KE. Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed <i>in vivo<\/i> and <i>in vitro<\/i> is determined by the conformation of the retained N-propeptide. 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Partial <i>COL1A2<\/i> gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet. 2000; 106:19-28.","DOI":"10.1007\/s004390051004"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Chiodo AA, Hockey A, Cole WG. A base substitution at the splice acceptor site of intron 5 of the <i>COL1A2<\/i> gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem. 1992; 267:6361-6369.","DOI":"10.1016\/S0021-9258(18)42703-2"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Nicholls AC, Valler D, Wallis S, Pope FM. Homozygosity for a splice site mutation of the <i>COL1A2<\/i> gene yields a non-functional pro\u03b12(I) chain and an EDS\/OI clinical phenotype. J Med Genet. 2001; 38:132-136.","DOI":"10.1136\/jmg.38.2.132"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res. 1997; 25:181-187.","DOI":"10.1093\/nar\/25.1.181"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Dalgleish R. The Human Collagen Mutation Database 1998. Nucleic Acids Res. 1998; 26:253-255.","DOI":"10.1093\/nar\/26.1.253"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Lund A, Joensen F, Christensen E, Duno M, Skovby F, Schwartz M. A novel arginine-to-cysteine substitution in the triple helical region of the \u03b11(I) collagen chain in a family with an osteogenesis imperfecta\/Ehlers-Danlos phenotype. Clin Genet. 2008; 73:97-101.","DOI":"10.1111\/j.1399-0004.2007.00926.x"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC. Y-position cysteine substitution in type I collagen (\u03b11(I) R888C\/p.R1066C) is associated with osteogenesis imperfecta\/Ehlers-Danlos syndrome phenotype. Hum Mutat. 2007; 28:396-405.","DOI":"10.1002\/humu.20456"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A. Met&gt;Val substitution in a highly conserved region of the pro-\u03b11(I) collagen C-propeptide domain causes alternative splicing and a mild EDS\/OI phenotype. J Med Genet. 2004; 41:e96.","DOI":"10.1136\/jmg.2003.014589"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez-Gonzalez V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta\/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013; 8:78.","DOI":"10.1186\/1750-1172-8-78"},{"key":"19","doi-asserted-by":"publisher","unstructured":"19. Ackermann AM, Levine MA. Compound heterozygous mutations in <i>COL1A1<\/i> associated with an atypical form of type I osteogenesis imperfecta. Am J Med Genet A. 2017. doi: 10.1002\/ajmg.a.38238.","DOI":"10.1002\/ajmg.a.38238"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Shi X, Lu Y, Wang Y, Zhang YA, Teng Y, Han W, Han Z, Li T, Chen M, Liu J, Fang F, Dou C, Ren X, Han J. Heterozygous mutation of c.3521C&gt;T in <i>COL1A1<\/i> may cause mild osteogenesis imperfecta\/Ehlers-Danlos syndrome in a Chinese family. Intractable Rare Dis Res. 2015; 4:49-53.","DOI":"10.5582\/irdr.2014.01039"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. Am J Med Genet A. 2014; 164a:386-391.","DOI":"10.1002\/ajmg.a.36285"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J. Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the pro\u03b11(I) collagen gene in Chinese osteogenesis imperfecta patients. Clin Endocrinol (Oxf). 2014; 80:524-531.","DOI":"10.1111\/cen.12354"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Liu Y, Asan, Ma D, <i>et al<\/i>. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. 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