Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia

Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter.Thissyndromeis amicromelic dysplasia with multiplebone deformities of the hands, feet, knees and spine. Inthis paper we report a Colombian adult...