A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report

Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders, with a prevalence of 1 in 15,000–20,000 births. OI type V has been described in approximately 150 cases and all patients carry the variant (c.-14C> T) in the IFITM5 gene. However, two other variants, p.S40L and p.N48S have bee...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Giraldo-Ocampo, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9717602/
https://www.ncbi.nlm.nih.gov/pubmed/36467431
http://dx.doi.org/10.2147/ORR.S385146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9717602/
https://www.ncbi.nlm.nih.gov/pubmed/36467431
http://dx.doi.org/10.2147/ORR.S385146

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