Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Vogel GF;Mozer-Glassberg Y;Landau YE;Schlieben LD;Prokisch H;Feichtinger RG;Mayr JA;Brennenstuhl H;Schröter J;Pechlaner A;Alkuraya FS;Baker JJ;Barcia G;Baric I;Braverman N;Burnyte B;Christodoulou J;Ciara E;Coman D;Das AM;Darin N;Della Marina A;Distelmaier F;Eklund EA;Ersoy M;Fang W;Gaignard P;Ganetzky RD;Gonzales E;Howard C;Hughes J;Konstantopoulou V;Kose M;Kerr M;Khan A;Lenz D;McFarland R;Margolis MG;Morrison K;Müller T;Murayama K;Nicastro E;Pennisi A;Peters H;Piekutowska-Abramczuk D;Rötig A;Santer R;Scaglia F;Schiff M;Shagrani M;Sharrard M;Soler-Alfonso C;Staufner C;Storey I;Stormon M;Taylor RW;Thorburn DR;Teles EL;Wang JS;Weghuber D;Wortmann S.

2022-01-01