A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age

Osteogenesis imperfecta (OI) is a rare heritable skeletal dysplasia, clinically characterized by abnormal bone fragility and predisposition to fractures. Here, we describe the case of a 30-year-old woman harboring a novel frameshift variant in the COL1A1 gene, causing a mild but characteristic pheno...

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Detalles Bibliográficos
Autores principales: Berti, Sabrina, Luppi, Elena, Seri, Marco, Zavatta, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580496/
https://www.ncbi.nlm.nih.gov/pubmed/37908991
http://dx.doi.org/10.1210/jcemcr/luad096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580496/
https://www.ncbi.nlm.nih.gov/pubmed/37908991
http://dx.doi.org/10.1210/jcemcr/luad096

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