Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Erik Rosenhahn(Leipzig University), Konrad Platzer(Leipzig University), Ayat H. Al Safar(Imam Abdulrahman Bin Faisal University), Mariateresa Zanobio(University of Campania "Luigi Vanvitelli"), Maha S. Zaki(National Research Centre), Renaud Touraine(Centre Hospitalier Universitaire de Saint-Étienne), Nicole Lesko(Karolinska University Hospital), Sofia Ygberg(Karolinska University Hospital), Brahim Tabarki(Riyadh Armed Forces Hospital), Maryam Ghavideldarestani(Sina Hospital), Sandrina P. Correia(Karolinska University Hospital), Ghada M. H. Abdel‐Salam(National Research Centre), Abdullah Alamri(Imam Abdulrahman Bin Faisal University), Haytham Hussien(Alexandria University), Amal Alhashem(Riyadh Armed Forces Hospital), Anna Wredenberg(Karolinska University Hospital), Homa Tajsharghi(University of Skövde), Nada F. Alahmady(Imam Abdulrahman Bin Faisal University), Kevin Rostásy(Witten/Herdecke University), André EX Brown(Imperial College London), Johannes R. Lemke(Leipzig University), Antonio Vitobello(Inserm), Seyed Mohammad Seyedhassani, Heinrich Sticht(Friedrich-Alexander-Universität Erlangen-Nürnberg), Inès Harzallah(Centre Hospitalier Universitaire de Saint-Étienne), Nicola Brunetti‐Pierri(Federico II University Hospital), Dagmar Wieczorek(Essen University Hospital), Sophie Nambot(Inserm), Rami Abou Jamra(Leipzig University), Ina Sorge(University Hospital Leipzig), Mohamed S. Abdel‐Hamid(National Research Centre), Henry Houlden(University College London), Thomas O’Brien(MRC London Institute of Medical Sciences), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Gaetano Terrone(University of Naples Federico II), Mohammad Shahrooei(Rega Institute for Medical Research), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Julia Hentschel(University Hospital Leipzig), Annalaura Torella(University of Campania "Luigi Vanvitelli"), Dalal Bubshait(Imam Abdulrahman Bin Faisal University), Joseph G. Gleeson(Howard Hughes Medical Institute), Abdolmajid Omrani(Bushehr University of Medical Sciences), Mahya Ebrahimi Nasab(Yazd University), Tarek Omar(Alexandria University), Heba Morsy(National Hospital for Neurology and Neurosurgery)
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