RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
Nadra Nasser Samra(Bar-Ilan University), Karin Weiss(Technion – Israel Institute of Technology), Shir Toubiana(Technion – Israel Institute of Technology), Hilde Yttervik(University Hospital of North Norway), Hagit Baris Feldman(Tel Aviv University), Kristian Tveten(Telemark Hospital), Chen Itzkovich(Rambam Health Care Campus), Adi Mory(Tel Aviv Sourasky Medical Center), Ilham Morani(Rebecca Sieff Hospital), Sara Selig(Technion – Israel Institute of Technology), Lucy A. Godley(University of Chicago), Liran Giladi(Technion – Israel Institute of Technology), Aya Tzur-Gilat(Technion – Israel Institute of Technology), Kamal Abu Jabal(Rebecca Sieff Hospital), John Z. Cao(University of Chicago)
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