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Giunta, C; Elçioglu, N H; Albrecht, B; Eich, G; Chambaz, C; Janecke, A R; Yeowell, H; Weiss, M; Eyre, D R; Kraenzlin, M; Steinmann, B (2008). Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. American Journal of Human Genetics, 82(6):1290-1305.