Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 3; peer review: 2 approved]

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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Autores principales:	Yasser Ciro Sullcahuaman Allende, Julio Cesar Mendoza Fernández, Melissa Sindy Peláez Chomba, Guillermo Raúl Vásquez Gómez, Vicente Leandro Cruzate Cabrejos, Nelson David Purizaca Rosillo, Alejandra Zevallos
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	F1000 Research Ltd 2023-10-01
Colección:	F1000Research
Materias:	Osteogenesis imperfecta newborn prenatal diagnosis eng
Acceso en línea:	https://f1000research.com/articles/12-603/v3
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