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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Authors:Adeline Vanderver  Davide Tonduti  Ilana Kahn  Johanna Schmidt  Livija Medne  Jodie Vento  Kimberly A. Chapman  Brendan Lanpher  Phillip Pearl  Andrea Gropman  Charles Lourenco  John‐Steven Bamforth  Cynthia Sharpe  Mercédes Pineda  Jens Schallner  Olaf Bodamer  Simona Orcesi  Saskia A. J. Lesnik Oberstein  Erik A. Sistermans  Helger G. Yntema  Carsten Bonnemann  Amy T. Waldman  Marjo S. van der Knaap
Affiliation:1. Department of Neurology, Children's National Medical Center, Washington, District of Columbia;2. Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy;3. Department of Pediatrics, Children's National Medical Center, Washington, District of Columbia;4. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;5. Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania;6. Department of Genetics, Children's National Medical Center, Washington, District of Columbia;7. Neurogenetics Unit, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil;8. Medical Genetics Clinic, University of Alberta Hospital, Edmonton, Alberta, Canada;9. Paediatric Neurology, Starship Children's Hospital, Auckland, New Zealand;10. Fundació, Hospital Sant Joan de Deu, Barcelona, Spain;11. Klinik und Poliklinik für Kinder‐ und Jugendmedizin, Uniklinikum Dresden, Dresden, Germany;12. Department of Human Genetics, University of Miami Miller School of Medicine, Miami;13. Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy;14. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;15. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands;16. Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;17. National Institutes of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;18. Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Abstract:
Keywords:macrocephaly  perivascular  autism spectrum disorder  magnetic resonance imaging  genetics  PTEN  hamartoma  leukoencephalopathy
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