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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey Ratliff, Marion Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delphine Héron, Cyril Mignot, Boris Keren, Susan Sklower 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 Muller, Karli Blocker, Outi Kuismin, Kristen Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin D. Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda 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 Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal M. Khouj, Javeria Raza Alvi, Tipu Sultan, Narges Hashemi, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stéphanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier

2023Genetics in Medicine12 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationPhenotypeGeneticsBiologyNeurodevelopmental disorderGTPaseGenotypeIntellectual disabilityEpilepsyGeneNeuroscienceGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesUbiquitin and proteasome pathways
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders | Litcius