Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
核糖体蛋白RPS6KC1的双等位基因变异会导致一种复杂的神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.09.015
Planas-Serra, Laura; Rodríguez-Ruiz, Mar; Anderson, Eric Nathaniel; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Schlüter, Agatha; Verdura, Edgard; Gereñu, Gorka; Jiménez-Zúñiga, Andrés; Iñañez, Alejandro; Casas, Josefina; Bech, Joan Josep; De La Torre, Carolina; Martínez, Juan José; Ruiz, Montserrat; Fourcade, Stéphane; Iascone, Maria; Tenconi, Romano; Meier, Kolja; Diegmann, Susann; Lee, Reagan H C; Beland, Bakht; Mir, Asif; Darvish, Hossein; Chung, Wendy; Karimiani, Ehsan Ghayoor; Leal, Suzanne M; Schrauwen, Isabelle; Öhman, Susanna; Järvelä, Irma; Granvik, Johanna; Reinson, Karit; Kurvinen, Elvira; Õunap, Katrin; Schwan, Annemarie; Platzer, Konrad; Kalayci, Tuğba; Sharifi, Shahrashoub; Korenke, G Christoph; Houlden, Henry; Maroofian, Reza; López de Munaín, Adolfo; Casasnovas, Carlos; Pandey, Udai Bhan; Pujol, Aurora