Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
SNF8基因的双等位基因变异会导致一系列疾病，从严重的脑发育和癫痫性脑病到综合征性视神经萎缩。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.02.005
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias
