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pro vyhledávání: '"Rueda Badar"'
Autor:
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin Dawn Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami Abou Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal Mohammad Khouj, Javeria Raza Alvi, Tipu Sulta, Narges Hashemi, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Publikováno v:
Genetics in Medicine. :100885
PURPOSE Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy (DEE) with early-onset seizures and severe intellectual disability. METHODS By international collaboration we assembled indivi