Toplam kayıt 1, listelenen: 1-1

    • Mutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome 

      Dikoglu, Esra; Alfaiz, Ali; Gorna, Maria; Bertola, Deborah; Chae, Jong Hee; Cho, Tae-Joon; Derbent, Murat; Alanay, Yasemin; Guran, Tulay; Kim, Ok-Hwa; Llerenar, Juan C; Yamamoto, Guillerme; Superti-Furga, Giulio; Reymond, Alexandre; Xenarios, Ioannis; Stevenson, Brian; Campos-Xavier, Belinda; Bonafe, Luisa; Superti-Furga, Andrea; Unger, Sheila (2015)
      Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: ...