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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Journal Article published 4 Apr 2016 in Journal of Bone and Mineral Research volume 31 issue 8 on pages 1577 to 1585

Authors: Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniene, Beyhan Tüysüz, Outi Mäkitie