Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
Authors: Aiko Iwata-Otsubo; Cara M Skraban; Atsunori Yoshimura; Toyonori Sakata; Cesar Augusto P Alves; Sarah K Fiordaliso; Yukiko Kuroda; Jaime Vengoechea; Angela Grochowsky; Paige Ernste; Lauren Lulis; Addie Nesbitt; Ahmad Abou Tayoun; Christopher Gray; Meghan C Towne; Kelly Radtke; Elizabeth A Normand; Lindsay Rhodes; Christoph Seiler; Katsuhiko Shirahige; Kosuke Izumi
Collaborators: Al Jalila Children's Specialty Hospital; Children's Hospital of Philadelphia; Emory University; GeneDx; Invitae Corporation; Mohammed Bin Rashid University; The University of Texas; University of Michigan; University of Pennsylvania; University of Tokyo; Vanderbilt University; Veritas Genetics