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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

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Title: Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
Authors: McRae HM; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Leong MPY; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Bergamasco MI; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Garnham AL; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Hu Y; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia., Corbett MA; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Whitehead L; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., El-Saafin F; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Sheikh BN; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Wilcox S; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Hannan AJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia., Gécz J; Robinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Smyth GK; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; School of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Australia., Thomas T; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Voss AK; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.
Source: PLoS genetics [PLoS Genet] 2024 Oct 15; Vol. 20 (10), pp. e1011428. Date of Electronic Publication: 2024 Oct 15 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
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  Data: Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
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