Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

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Authors: Erik Rosenhahn, Thomas J O'Brien, Maha S Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S Alkuraya, Mais O Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S Alamri, Ayat H Al Safar, Dalal K Bubshait, Nada F Alahmady, Joseph G Gleeson, Mohamed S Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P Correia, Anna Wredenberg, Shahryar Alavi, Seyed M Seyedhass

Journal title: American Journal of Human Genetics

Journal publisher: Cell Press

Published year: 2022

DOI identifier: 10.1016/j.ajhg.2022.06.008

ISSN: 1537-6605