Osteogenesis imperfecta in Brazilian patients

Osteogenesis imperfecta in Brazilian patients

Abstract 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 w...

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Bibliographic Details
Main Authors: Maira Trancozo, Marcos V.D. Moraes, Dalila A. Silva, Jéssica A.M. Soares, Clara Barbirato, Márcio G. Almeida, Lígia R. Santos, Maria R. G. O. Rebouças, Akel N. Akel Jr, Valentim Sipolatti, Vanda R. R. Nunes, Flavia I. V. Errera, Meire Aguena, Maria R. Passos-Bueno, Flavia de Paula
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2019-08-01
Series:Genetics and Molecular Biology
Subjects:
NGS gene panel
COL1A1/COL1A2 genes
FKBP10 gene
P3H1 gene
IFITM5 gene
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344&tlng=en

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