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Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome

Summary: Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of BFLS remains poorly understood. Here, we report a mouse model of BFLS, generated using a CRISPR-Cas9 approach, in which cyst...

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Principais autores: Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, Carla Yuede, Daofeng Li, Nicholas Rensing, Ju Huang, Dustin Baldridge, Susan E. Maloney, Joseph D. Dougherty, John Constantino, Arezu Jahani-Asl, Michael Wong, David F. Wozniak, Ting Wang, Vitaly A. Klyachko, Azad Bonni
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018-11-01
Series:Cell Reports
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S2211124718316322
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