An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
Corresponding Author
Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan
Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan
Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France
Correspondence
Dr. Ashraf Yahia, Department of Biochemistry, Faculty of Medicine, University of Khartoum, The Medical Campus, Alqsr street, Khartoum, Sudan.
Email: kambalawy@hotmail.com
Prof. Dr. Holger Lerche, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Otfried-Müller Str. 27, 72076 Tübingen, Germany.
Email: holger.lerche@uni-tuebingen.de
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