Now showing items 1-1 of 1

    • Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia 

      Royer Bertrand, Beryl; Castillo Taucher, Silvia; Moreno Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos Xavier, Belinda; Girardi, Enrico; Superti Furga, Giulio; Bonafe, Luis; Rivolta, Carlo; Unger, Sheila; Superti Furga, Andrea (Nature Publishing, 2015)
      We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we ...