Browsing by Author "Superti Furga, Andrea"
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Report of a novel mutation in the slc26a2 gene foud in a colomian adult patient with diastrophic dysplasia
Pineda, Tatiana; Rossi, Antonio; Bonafe, Luisa; Superti Furga, Andrea; Velasco, Harvy M.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 ...Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de Medicina.