Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Titel:
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Auteur:
Kremer, Laura S. Distelmaier, Felix Alhaddad, Bader Hempel, Maja Iuso, Arcangela Küpper, Clemens Mühlhausen, Chris Kovacs-Nagy, Reka Satanovskij, Robin Graf, Elisabeth Berutti, Riccardo Eckstein, Gertrud Durbin, Richard Sauer, Sascha Hoffmann, Georg F. Strom, Tim M. Santer, René Meitinger, Thomas Klopstock, Thomas Prokisch, Holger Haack, Tobias B.