A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)
- Resource Type
- Authors
- Olson, Heather E.; Jean-Marcais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A.; Bijlsma, Emilia K.; Krock, Bryan L.; Backer, E.; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R. F.; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J.; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T.; Smith, Lacey A.; Sheidley, Beth R.; El Achkar, Christelle Moufawad; Pearl, Phillip L.; Poduri, Annapurna; Skraban, Cara M.; Tarpinian, Jennifer; Nesbitt, Addie I.; van de Putte, Dietje E. Fransen; Ruivenkamp, Claudia A. L.; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A.; Waxler, Jessica L.; Wierenga, Klaas J.; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M.; Nava, Caroline; Riviere, Jean-Baptiste; Vitobello, Antonio; Mau-Them, Frerdric Tran; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H.; Schuurs-Hoeijmakers, Janneke
- Source
- American Journal of Human Genetics, 103(4). CELL PRESS
- Subject
- Language
- English
- ISSN
- 0002-9297