[1] Micvha D, Pals G, Smit TH, et al. An invitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients[J]. Biochem Bioph Res Commun,2020,521(2):310-317.
[2] Lin Z, Zeng J, Wang X. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1[J].Biosci Rep, 2019,39(7):BSR20181409.
[3] 彭税,李俊,董宇.成骨不全1例及文献复习[J].中国现代医生,2021,59(23):142-145.
Peng S, Li J, Dong Y. A case of osteogenesis imperfecta and literature review[J].Chin Mod Doc,2021,59(23):142-145. (in Chinese)
[4] Martin E, Shapiro J R. Osteogenesis imperfecta: Epidemiology and pathophysiology[J].Curr Osteoporos Rep,2007,5(3):91-97.
[5] Shi X, Lu Y, Wang Y, et al. Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family[J]. Intractable Rare Dis Res,2015,4(1):49-53.
[6] Rauch F, Lalic L, Roughley P, et al. Genotype-phenotype correlations in nonlethal osteogenesis imperfect caused by mutations in the helical domain of collagen type Ⅰ[J].Eur J Hum Genet,2010,18(6):642.
[7] Lu Y, Wang Y, Rauch F, et al.Osteogenesis imperfecta type Ⅲ/Ehlers-Danlos overlap syndrome in a Chinese man[J]. Intractable Rare Dis Res,2018,7(1):37-41.
[8] Glorieux FH, Rowe D. Osteogenesis imperfecta[J].Best Pract Res Clin Rheumatol,2008,22(1):85-100.
[9] Forlino A, Marini JC. Osteogenesis imperfect[J]. Lancet, 2016,16:1657-1671.
[10] Cabral WA, Makareeva E, Colige A, et al. Mutations near amino end of α1(Ⅰ) collagen cause combined osteogenesis imperfecta/ehlers-danlos syndrome by interference with N-propeptide processing[J]. J Biol Chem, 2005,280:19259-19269.
[11] 余长缨,王午喜,韩德宣.儿童成骨不全的诊治进展[J].中国儿童保健杂志,2014,22(2):156-157.
Yu CY, Wang WX, Hang DX. Progress in diagnosis and treatment of childhood osteogenesis imperfecta[J]. Chin J Child Health Care,2014,22(2):156-157.(in Chinese) |
