Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands, feet, knees and spine. Objective. Describe t...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Universidad Nacional de Colombia
2013-07-01
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| coleção: | Revista de la Facultad de Medicina |
| Assuntos: | |
| Acesso em linha: | https://revistas.unal.edu.co/index.php/revfacmed/article/view/42650 |
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