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Genotype-phenotype Correlations in RHOBTB2-associated Neurodevelopmental Disorders

Franziska Langhammer,Reza Maroofian,Anne Gregor,Christiane Zweier,Michelle Rochman,Marije Koopmans,Fanny Kortuem,Cyril Mignot,Christina Botti,Bruria Ben-Zeev,Emanuela Argilli,Varunvenkat Srinivasan,Somayeh Bakhtiari,Alma Kuchler, Karli Blocker,Outi Kuismin,Kristen Park,Kathleen Brown, Subha Ramanathan,Chadi Al Alam,Gia Melikishvili,Zornitza Stark,Ghayda Mirzaa,Majida Charif,Mohammed Bellaoui,Fuad Al Mutairi,Ute Grasshoff,Abdullah Tamim,Fowzan Alkuraya,Tipu Sultan,Narges Hashemi,Ehsan Ghayoor Karimiani,Farah Ashrafzadeh,Lydia von Wintzingerode,Paula Goldenberg,Henry Houlden, Rueda Badar,Heinrich Sticht

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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关键词
Developmental and epileptic encephalopathy,Intellectual disability,Neurodevelopmental disorder,RHOBTB2,Seizures
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