학술논문
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Document Type
Artikel
Author
Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; Nambot, S; Alkuraya, FS; Hashem, MO; Alhashem, A; Tabarki, B; Alamri, AS; Al Safar, AH; Bubshait, DK; Alahmady, NF; Gleeson, JG; Abdel-Hamid, MS; Lesko, N; Ygberg, S; Correia, SP; Wredenberg, A; Alavi, S; Seyedhassani, SM; Nasab, ME; Hussien, H; Omar, TEI; Harzallah, I; Touraine, R; Tajsharghi, H; Morsy, H; Houlden, H; Shahrooei, M; Ghavideldarestani, M; Abdel-Salam, GMH; Torella, A; Zanobio, M; Terrone, G; Brunetti-Pierri, N; Omrani, A; Hentschel, J; Lemke, JR; Sticht, H; Abou Jamra, R; Brown, AEX; Maroofian, R; Platzer, K
Source
American journal of human genetics. 109(8):1421-1435
Subject
Language
English
English
English
ISSN
1537-6605