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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Horn, Susanne; Au, Margaret; Basel-Salmon, Lina; Bayrak-Toydemir, Pinar; Chapin, Alexander; Cohen, Lior; Elting, Mariet W; Graham, John M; Gonzaga-Jauregui, Claudia; Konen, Osnat; Holzer, Max; Lemke, Johannes; Miller, Christine E; Rey, Linda K; Wolf, Nicole I; Weiss, Marjan M; Waisfisz, Quinten; Mirzaa, Ghayda M; Wieczorek, Dagmar; Sticht, Heinrich; Abou Jamra, Rami.
Affiliation
  • Horn S; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Au M; Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Bayrak-Toydemir P; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Chapin A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Cohen L; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
  • Elting MW; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.
  • Graham JM; ARUP Laboratories, Salt Lake City, UT, USA.
  • Gonzaga-Jauregui C; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Konen O; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Holzer M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lemke J; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
  • Miller CE; Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, De Boelelaan 1117, Amsterdam, The Netherlands.
  • Rey LK; Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Wolf NI; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
  • Weiss MM; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Waisfisz Q; Department of Pediatric Radiology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Mirzaa GM; Department for Molecular and Cellular Mechanisms of Neurodegeneration, Paul Flechsig Institute for Brain Research, University of Leipzig, Leipzig, Germany.
  • Wieczorek D; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Sticht H; ARUP Laboratories, Salt Lake City, UT, USA.
  • Abou Jamra R; Institute of Human Genetics, University Hospital Duesseldorf, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.
Brain ; 142(11): 3351-3359, 2019 11 01.
Article in En | MEDLINE | ID: mdl-31504246
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / P21-Activated Kinases / Megalencephaly / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Brain Year: 2019 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / P21-Activated Kinases / Megalencephaly / Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Brain Year: 2019 Type: Article Affiliation country: Germany