Toplam kayıt 1, listelenen: 1-1

    • Autosomal Dominant Osteopetrosis Type II 

      Ozkan, Aslihan Kusvuran; Doruk, Pinar; Adam, Mehmet; Celik, Zerrin Yilmaz; Leblebici, Berrin (2015)
      Osteopetrosis is a rare genetic disorder caused by osteoclast failure. Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and ...