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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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| Опубликовано в: : | J Pediatr Genet |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Georg Thieme Verlag KG
2018
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| Online-ссылка: | 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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