Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

BACKGROUND: Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%–90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between p...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Santos, Savana C. L., Rizzo, Isabela M. P. O., Takata, Reinaldo I., Speck‐Martins, Carlos E., Brum, Jaime M., Sollaci, Claudio
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6014457/
https://ncbi.nlm.nih.gov/pubmed/29529714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.382
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