Associated Papers
A Distinctive Skeletal Phenotype in an Adult With IFITM5 -Associated Osteogenesis Imperfecta due to p.Ser40Leu Variant.
Amalnath D et al.
American Journal of Medical Genetics. Part A, 2025
Abnormal signal pathways and tumor heterogeneity in osteosarcoma.
Sun Y et al.
Journal of Translational Medicine, 2023
The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Maranda V et al.
International Journal of Molecular Sciences, 2022
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report.
Pachajoa H et al.
Orthopedic Research and Reviews, 2022
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Mäkitie RE et al.
Calcified Tissue International, 2021
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