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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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書目詳細資料
發表在:Genet Mol Biol
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Sociedade Brasileira de Genética 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6726155/
https://ncbi.nlm.nih.gov/pubmed/31429852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0043
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