Konu "Alström syndrome" için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme

Toplam kayıt 1, listelenen: 1-1

    • Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome 

      Taşkesen, Mustafa; Collin, Gayle B.; Evsikov, Alexei V.; Güzel, Ayşegül; Özgül, Rıza Köksal; Marshall, Jan D.; Naggert, Juergen K. (Springer, 2012)
      Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...