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Pathogenenic variant in theCOL2A1gene is associated with Spondyloepiphyseal dysplasia type Stanescu

Journal Article published 30 Sep 2015 in American Journal of Medical Genetics Part A volume 170 issue 1 on pages 266 to 269

Research funded by Stockholms Läns Landsting | Karolinska Institutet

Authors: Anna Hammarsjö, Ann Nordgren, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Sara Wedrén, Magnus Nordenskjöld, Gen Nishimura, Giedre Grigelioniene