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

作者信息

Olson Heather E, Jean-Marçais 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, Fransen van de Putte Dietje E, 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, Rivière Jean-Baptiste, Vitobello Antonio, Mau-Them Frédéric Tran, Philippe Christophe, Bruel Ange-Line, Duffourd Yannis, Thomas Laurel, Lelieveld Stefan H, Schuurs-Hoeijmakers Janneke, Brunner Han G, Keren Boris, Thevenon Julien, Faivre Laurence, Thomas Gary, Thauvin-Robinet Christel

出版信息

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002.

DOI:10.1016/j.ajhg.2018.09.002
PMID:30290155
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6174321/
Abstract
摘要

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