Craniocervical abnormalities in osteogenesis imperfecta type V
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00198-021-06088-x.pdf
Reference22 articles.
1. Forlino A, Marini JC (2016) Osteogenesis imperfecta. Lancet 387(10028):1657–1671. https://doi.org/10.1016/s0140-6736(15)00728-x
2. Bardai G, Moffatt P, Glorieux FH, Rauch F (2016) DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int 27(12):3607–3613. https://doi.org/10.1007/s00198-016-3709-1
3. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P et al (2000) Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 15(9):1650–1658. https://doi.org/10.1359/jbmr.2000.15.9.1650
4. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM et al (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(1):21–4. https://doi.org/10.1136/jmedgenet-2012-101307
5. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J et al (2012) A mutation in the 5’-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91(2):349–357. https://doi.org/10.1016/j.ajhg.2012.06.011
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