Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at Sa...

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Detalles Bibliográficos
Autores principales: Peláez Chomba, Melissa Sindy, Vásquez Gómez, Guillermo Raúl, Sullcahuaman Allende, Yasser Ciro, Mendoza Fernández, Julio Cesar, Purizaca Rosillo, Nelson David, Zevallos, Alejandra, Cruzate Cabrejos, Vicente Leandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565417/
https://www.ncbi.nlm.nih.gov/pubmed/37829592
http://dx.doi.org/10.12688/f1000research.131094.3

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