A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
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| Description | scientific article published on 10 April 2018 |
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author: Antonio Vitobello Klaas J. Wierenga David A. Sweetser Han G. Brunner Delphine Héron Margot R F Reijnders Annapurna Poduri Janneke H M Schuurs-Hoeijmakers Erik-Jan Kamsteeg Ange-Line Bruel |
| Publication date | April 10, 2018 |
| Language | English |
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