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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Mol Biol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sociedade Brasileira de Genética 2019
Pynciau:
Human and Medical Genetics
Mynediad Ar-lein: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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