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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 no: | Orthop Surg |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons Australia, Ltd
2020
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| Assuntos: | |
| Acesso em linha: | 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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