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

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• 来源
  《The American Journal of Human Genetics》 |2018年第4期|共1页
• 作者

  Heather E. Olson; Nolwenn Jean-Mar?ais; 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 Telegrafi; Roelineke J. Lunsing; Lydie Burglen; Gaetan Lesca; Megan T. Cho; Lacey A. Smith; Beth R. Sheidley; Christelle Moufawad El Achkar; Phillip L. Pearl; Annapurna Poduri; Cara M. Skraban; Jennifer Tarpinian; Addie I. Nesbitt; Dietje E. Fransen van de Putte; Claudia A.L. Ruivenkamp; Patrick Rump; Nicolas Chatron; Isabelle Sabatier; Julitta De Bellescize; Laurent Guibaud; David A. Sweetser; Jessica L. Waxler; Klaas J. Wierenga; Jean Donadieu; Vinodh Narayanan; Keri M. Ramsey; Caroline Nava; Jean-Baptiste Rivière; Antonio Vitobello; Frédéric Tran Mau-Them; Christophe Philippe; Ange-Line Bruel; Yannis Duffourd; Laurel Thomas; Stefan H. Lelieveld; Janneke Schuurs-Hoeijmakers; Han G. Brunner; Boris Keren; Julien Thevenon; Laurence Faivre; Gary Thomas; Christel Thauvin-Robinet; DDD Study; C4RCD Research Group;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
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