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Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members
Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2). The goal of this study was to elucidate the genetic alterat...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723372/ https://www.ncbi.nlm.nih.gov/pubmed/26839764 http://dx.doi.org/10.1186/s40064-016-1695-6 |