A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
scientific article published on 01 October 2018
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author: Antonio Vitobello, Han G. Brunner, Annapurna Poduri, Delphine Héron, David A. Sweetser, Klaas J. Wierenga, Ange-Line Bruel, Margot R F Reijnders, Janneke H M Schuurs-Hoeijmakers, Erik-Jan Kamsteeg, Gaetan Lesca, Nicolas Chatron, Yannis Duffourd
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