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A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis
Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones. 3 genes are known to be involved in the formation of exostoses. Among them, EXT1 and EXT2,...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2001
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2364055/ https://www.ncbi.nlm.nih.gov/pubmed/11461073 http://dx.doi.org/10.1054/bjoc.2001.1880 |