Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Planas-Serra L, Rodríguez-Ruiz M, Anderson EN, Rodríguez-Palmero A, Vélez-Santamaria V, Schlüter A, Verdura E, Gereñu G, Jiménez-Zúñiga A, Iñañez A, Casas J, Bech JJ, De La Torre C, Martínez JJ, Ruiz M, Fourcade S, Iascone M, Tenconi R, Meier K, Diegmann S, Lee RHC, Beland B, Mir A, Darvish H, Chung W, Karimiani EG, Leal SM, Schrauwen I, Öhman S, Järvelä I, Granvik J, Reinson K, Kurvinen E, Õunap K, Schwan A, Platzer K, Kalayci T, Sharifi S, Korenke GC, Houlden H, Maroofian R, López de Munaín A, Casasnovas C, Pandey UB, Pujol A.
Planas-Serra L, et al. Among authors: granvik j.
Am J Hum Genet. 2025 Nov 6;112(11):2643-2664. doi: 10.1016/j.ajhg.2025.09.015. Epub 2025 Oct 22.
Am J Hum Genet. 2025.
PMID: 41130203