Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
Titel:
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
Auteur:
Ivanova, Ekaterina L. Mau-Them, Frédéric Tran Riazuddin, Saima Kahrizi, Kimia Laugel, Vincent Schaefer, Elise de Saint Martin, Anne Runge, Karen Iqbal, Zafar Spitz, Marie-Aude Laura, Mary Drouot, Nathalie Gérard, Bénédicte Deleuze, Jean-François de Brouwer, Arjan P.M. Razzaq, Attia Dollfus, Hélène Assir, Muhammad Zaman Nitchké, Patrick Hinckelmann, Maria-Victoria Ropers, Hilger Riazuddin, Sheikh Najmabadi, Hossein van Bokhoven, Hans Chelly, Jamel