A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

(The American Journal of Human Genetics 102, 995 –1007; May 3, 2018)

Source: The American Journal of Human Genetics - October 4, 2018 Category: Genetics & Stem Cells Authors: Heather E. Olson, Nolwenn Jean-Mar çais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Tags: Correction Source Type: research