COL1A2 (p.Gly322Ser) Mutation Causes Late-Onset Osteogenesis Imperfecta: A Case Report

Osteogenesis imperfecta (OI) is a genetically inherited disorder that mainly affects the bones and causes a generalized decrease in bone mass. OI has a broad clinical spectrum ranging from the most severe form of OI which may cause in-utero death or stillbirth to the milder form. Clinical manifestat...

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Detalles Bibliográficos
Autores principales: Muñoz-Miro, Hector, Lugo, Elyette, Carlo, Simon, Ramírez, Norman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649282/
https://www.ncbi.nlm.nih.gov/pubmed/36381796
http://dx.doi.org/10.7759/cureus.30172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649282/
https://www.ncbi.nlm.nih.gov/pubmed/36381796
http://dx.doi.org/10.7759/cureus.30172

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