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Report of a novel mutation in the SLC26A2 gene found in a Colombian 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 the...
Gorde:
| Argitaratua izan da: | Revista de la Facultad de Medicina |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Universidad Nacional de Colombia
2013
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| Gaiak: | |
| Sarrera elektronikoa: | https://www.redalyc.org/articulo.oa?id=576363535011 |
| Etiketak: |
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