Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00223-021-00879-4.pdf
Reference25 articles.
1. Forlino A, Marini JC (2016) Osteogenesis imperfecta. Lancet 387:1657–1671. 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 27:3607–3613. https://doi.org/10.1007/s00198-016-3709-1
3. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJR, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Chon DH, Akarsu N, Krakow D (2010) Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86:551–559. https://doi.org/10.1016/j.ajhg.2010.02.022
4. Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS (2010) FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet 87:306–307. https://doi.org/10.1016/j.ajhg.2010.09.001
5. Ishikawa Y, Vranka J, Wirz J, Nagata K, Bächinger HP (2008) The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens. J Biol Chem 283:31584–31590. https://doi.org/10.1074/jbc.M802535200
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