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Identification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma
Multiple osteochondroma (MO), also known as multiple hereditary exostoses, is an autosomal dominant skeletal disorder with characteristic multiple cartilage-capped tumours (osteochondromas or exostoses) growing outward from the metaphyseal region of the long tubular bones. Mutations in exostosin gly...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727190/ https://www.ncbi.nlm.nih.gov/pubmed/26870176 http://dx.doi.org/10.3892/ol.2015.3844 |