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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

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