Osteogenesis imperfecta in Brazilian patients

Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this...

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Detalles Bibliográficos
Autores principales: Trancozo, Maira, Moraes, Marcos V.D., Silva, Dalila A., Soares, Jéssica A.M., Barbirato, Clara, Almeida, Márcio G., Santos, Lígia R., Rebouças, Maria R. G. O., Akel, Akel N., Sipolatti, Valentim, Nunes, Vanda R. R., Errera, Flavia I. V., Aguena, Meire, Passos-Bueno, Maria R., de Paula, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726155/
https://www.ncbi.nlm.nih.gov/pubmed/31429852
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0043

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