Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
GTF3C3基因的双等位基因变异会导致一种常染色体隐性遗传疾病，并伴有智力障碍。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101253
De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Ying; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J
