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 the...