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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Bibliographic Details

Published in:	Cell Reports
Main Authors:	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
Format:	Article
Language:	English
Published:	Elsevier 2018-11-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S2211124718316322