A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
- 1 May 2018
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 102 (5), 995-1007
- https://doi.org/10.1016/j.ajhg.2018.03.005
Abstract
No abstract availableKeywords
Funding Information
- Regional Council of Burgundy / Dijon University hospital
- French Ministry of Health (PHRC N° 2013-A00103-42)
- NIH (R01 CA151564, DK112844, DK114855)
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