共 82 条
[1]
Forlino A(2016)Osteogenesis Imperfecta Lancet 387 1657-1671
[2]
Marini JC(2009)Mutation and polymorphism spectrum in Osteogenesis Imperfecta type II: implications for genotype-phenotype relationships Hum Mol Genet 18 463-471
[3]
Bodian DL(2013)Osteogenesis Imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients J Med Genet 50 21-24
[4]
Chan TF(2014)Osteogenesis Imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation Curr Opin Pediatr 26 500-507
[5]
Poon A(2019)Nosology and classification of genetic skeletal disorders: 2019 revision Am J Med Genet A 179 2393-2419
[6]
Schwarze U(1979)Genetic heterogeneity in Osteogenesis Imperfecta J Med Genet 16 101-116
[7]
Yang K(2007)Osteogenesis Imperfecta: epidemiology and pathophysiology Curr Osteoporos Rep 5 91-97
[8]
Byers PH(2004)Osteogenesis Imperfecta Lancet 363 1377-1385
[9]
Rauch F(2016)Mortality and causes of death in patients with Osteogenesis Imperfecta: a register-based nationwide cohort study J Bone Miner Res 31 2159-2166
[10]
Moffatt P(2012)Changes in bone mineral density and body composition during pregnancy and postpartum. A controlled cohort study Osteoporos Int 23 1213-1223