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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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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2018
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| Предметы: | |
| Online-ссылка: | 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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