Biallelic Variants in GTF3C3 Result in an Autosomal Recessive Disorder with Intellectual Disability
Lachlan De Hayr,Laura E. R. Blok,Kerith-Rae Dias,Jingyi Long,Anais Begemann, Robyn D. Moir, Ian M. Willis, Martina Mocera, Gabriele Siegel, Katharina Steindl,Carey-Anne Evans,Ying Zhu, Futao Zhang, Michael Field,Alan Ma,Lesley Ades,Sarah Josephi-Taylor,Rolph Pfundt,Maha S. Zaki,Hoda Tomoum,Anne Gregor, Julia Laube,Andre Reis,Sateesh Maddirevula, Mais O. Hashem,Markus Zweier,Fowzan S. Alkuraya,Reza Maroofian,Michael F. Buckley,Joseph G. Gleeson,Christiane Zweier,Mireia Coll-Tane,David A. Koolen,Anita Rauch,Tony Roscioli,Annette Schenck, Robert J. Harvey GENETICS IN MEDICINE(2025)
关键词
Intellectual disability,Minigene analysis,RNA polymerase III,Tfc4
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