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
Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.
Panzaru MC et al.
World Journal of Clinical Cases, 2023
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
Tyurin A et al.
Biomedicines, 2022
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 Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Mäkitie RE et al.
Calcified Tissue International, 2021
Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.
Peng Y et al.
Frontiers in Genetics, 2021
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta.
Zhytnik L et al.
Bmc Medical Genomics, 2020
A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
Lim JY et al.
Clinical Dysmorphology, 2019
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