Università LUM Giuseppe Degennaro - sito della Ricerca Institutional Research Information System

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Weng PL;Majmundar AJ;Khan K;Lim TY;Shril S;Jin G;Musgrove J;Wang M;Ahram DF;Aggarwal VS;Bier LE;Heinzen EL;Onuchic-Whitford AC;Mann N;Buerger F;Schneider R;Deutsch K;Kitzler TM;Klämbt V;Kolb A;Mao Y;Moufawad El Achkar C;Mitrotti A;Martino J;Beck BB;Altmüller J;Benz MR;Yano S;Mikati MA;Gunduz T;Cope H;Shashi V;Undiagnosed Diseases Network;Trachtman H;Bodria M;Caridi G;Pisani I;Fiaccadori E;AbuMaziad AS;Martinez-Agosto JA;Yadin O;Zuckerman J;Kim A;UCLA Clinical Genomics Center;John-Kroegel U;Tyndall AV;Parboosingh JS;Innes AM;Bierzynska A;Koziell AB;Muorah M;Saleem MA;Hoefele J;Riedhammer KM;Gharavi AG;Jobanputra V;Pierce-Hoffman E;Seaby EG;O'Donnell-Luria A;Rehm HL;Mane S;D'Agati VD;Pollak MR;Ghiggeri GM;Lifton RP;Goldstein DB;Davis EE;Hildebrandt F;Sanna-Cherchi S.

2021-01-01