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Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family
Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2018
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087478/ https://ncbi.nlm.nih.gov/pubmed/30105120 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1636998 |
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