TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
TRAPPC6B双等位基因变异会导致一种伴有TRAPP II和转运障碍的神经发育障碍。
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awad301
Hashem Almousa ,Sara A Lewis ,Somayeh Bakhtiari ,Sandra Hinz Nordlie ,Alex Pagnozzi ,Helen Magee ,Stephanie Efthymiou ,Jennifer A Heim ,Patricia Cornejo ,Maha S Zaki ,Najwa Anwar ,Shazia Maqbool ,Fatima Rahman ,Derek E Neilson ,Anusha Vemuri ,Sheng Chih Jin ,Xiao-Ru Yang ,Abolfazl Heidari ,Koen van Gassen ,Aurélien Trimouille ,Christel Thauvin-Robinet ,James Liu ,Ange-Line Bruel ,Hoda Tomoum ,Mennatallah O Shata ,Mais O Hashem ,Mehran Beiraghi Toosi ,Ehsan Ghayoor Karimiani ,Gözde Yeşil ,Lokesh Lingappa ,Debangana Baruah ,Farnoosh Ebrahimzadeh ,Julien Van-Gils ,Laurence Faivre ,Mina Zamani ,Hamid Galehdari ,Saeid Sadeghian ,Gholamreza Shariati ,Rahema Mohammad ,Jasper van der Smagt ,Alya Qari ,John B Vincent ,A Micheil Innes ,Ali Dursun ,R Köksal Özgül ,Halil Tuna Akar ,Kaya Bilguvar ,Cyril Mignot ,Boris Keren ,Claudia Raveli ,Lydie Burglen ,Alexandra Afenjar ,Laura Donker Kaat ,Marjon van Slegtenhorst ,Fowzan Alkuraya ,Henry Houlden ,Sergio Padilla-Lopez ,Reza Maroofian ,Michael Sacher ,Michael C Kruer