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Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing
OBJECTIVE: To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME). METHODS: The study recruited seven families diagno...
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| Publicado en: | Orthop Surg |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley & Sons Australia, Ltd
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7307237/ https://ncbi.nlm.nih.gov/pubmed/32293802 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/os.12660 |
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