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Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types by Sigrid Disse, Georgia Ramantani, Hanna Küpper, Annette Bock, Georg-Christoph Korenke, Birgit Weidner, Martin Preisel, Regina Trollmann, Adelheid Wiemer-Kruel, Sven Wellmann, Knut Brockmann, Simone Schroeder, Sascha Meyer
Published 2025-07-01Get full text
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Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family by Ann-Kathrin Bauer, Iris Marquardt, Benedikt Sundermann, Christine Wolf, Katrin Raupach, Kathrin Grundmann-Hauser, Laura Gieldon, Maximilian Otterbach, Martin Maurer, Tobias Haack, Min Ae Lee-Kirsch, Georg-Christoph Korenke, Marc-Phillip Hitz
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