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    • Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features 

      Arman, Ahmet; Bereket, Abdullah; Çoker Gürkan, Ajda; Şimşek Kiper, Pelin Özlem; Güran, Tülay; Özkan, Behzat; Atay, Zeynep; Akçay, Teoman; Haliloğlu, Belma; Boduroğlu, Koray; Alanay, Yasemin; Turan, Serap (Biomed Central Ltd, 236 Grays Inn Rd, Floor 6, London Wc1X 8Hl, England, 2014-04-26)
      Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to ...