A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the
IFITM5
brittle bone disease
case report
genetic skeletal disorders
osteogenesis imperfecta
Journal
Orthopedic research and reviews
ISSN: 1179-1462
Titre abrégé: Orthop Res Rev
Pays: New Zealand
ID NLM: 101531415
Informations de publication
Date de publication:
2022
2022
Historique:
received:
24
08
2022
accepted:
18
10
2022
entrez:
5
12
2022
pubmed:
6
12
2022
medline:
6
12
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36467431
doi: 10.2147/ORR.S385146
pii: 385146
pmc: PMC9717602
doi:
Types de publication
Case Reports
Langues
eng
Pagination
453-458Informations de copyright
© 2022 Pachajoa and Giraldo-Ocampo.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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