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  • Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

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Neurogenetics
Original research
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

Authors

  • Nora Oyama Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Pieter Vaneynde Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium KU Leuven Brain Institute (LBI), Leuven, Belgium PubMed articlesGoogle scholar articles
  • Sara Reynhout Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium KU Leuven Brain Institute (LBI), Leuven, Belgium PubMed articlesGoogle scholar articles
  • Emily M Pao Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Andrew Timms Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Xiao Fan Department of Pediatrics, Columbia University, New York City, New York, USA PubMed articlesGoogle scholar articles
  • Kimberly Foss Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA PubMed articlesGoogle scholar articles
  • Rita Derua Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium SyBioMa, University of Leuven (KU Leuven), Leuven, Belgium PubMed articlesGoogle scholar articles
  • Veerle Janssens Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium KU Leuven Brain Institute (LBI), Leuven, Belgium PubMed articlesGoogle scholar articles
  • Wendy Chung Department of Pediatrics, Columbia University, New York City, New York, USA Department of Medicine, Columbia University, New York City, New York, USA PubMed articlesGoogle scholar articles
  • Ghayda M Mirzaa Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA Department of Pediatrics, University of Washington, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Ghayda M Mirzaa, Center of Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA; Ghayda.Mirzaa{at}seattlechildrens.org
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Citation

Oyama N, Vaneynde P, Reynhout S, et al
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
Journal of Medical Genetics 2023;60:511-522.

Publication history

  • Received May 18, 2022
  • Accepted September 11, 2022
  • First published October 10, 2022.
Online issue publication 
May 11, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.