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Genotype-phenotype correlations
Short report
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Authors

  • Simone Gana Medical Genetics Unit, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, Italy PubMed articlesGoogle scholar articles
  • Antonella Casella Medical Genetics Unit, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Sara Cociglio Department of Child Neurology and Psychiatry, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, ItalyDepartment of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Elena Tartara Epilepsy Center, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, Italy PubMed articlesGoogle scholar articles
  • Elisa Rognone Department of Neuroradiology, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, Italy PubMed articlesGoogle scholar articles
  • Elisa Giorgio Medical Genetics Unit, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Anna Pichiecchio Neuroradiology Department, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Simona Orcesi Department of Child Neurology and Psychiatry, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, Italy PubMed articlesGoogle scholar articles
  • Enza Maria Valente Medical Genetics Unit, Foundation National Neurological Institute C Mondino Institute for Hospitalization and Care Scientific, Pavia, ItalyDepartment of Molecular Medicine, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Enza Maria Valente, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Lombardia, Italy; enzamaria.valente{at}unipv.it
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Citation

Gana S, Casella A, Cociglio S, et al
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
Journal of Medical Genetics Published Online First: 05 August 2021. doi: 10.1136/jmedgenet-2021-107783

Publication history

  • Received February 18, 2021
  • Accepted July 23, 2021
  • First published August 5, 2021.

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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.