Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

8. Travaglini L;Brancati F;Silhavy J;Iannicelli M;Nickerson E;Elkhartoufi N;Scott E;Spencer E;Gabriel S;Thomas S;Ben Zeev B;Bertini E;Boltshauser E;Chaouch M;Cilio MR;de Jong MM;Kayserili H;Ogur G;Poretti A;Signorini S;Uziel G;Zaki MS;FAZZI, Elisa Maria;Johnson C;Attié Bitach T;Gleeson JG;Valente E.M.

2013-01-01