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Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Authors

  • Maria J Nabais Sá Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The NetherlandsUnit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal PubMed articlesGoogle scholar articles
  • Kerry A Miller Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Mary McQuaid Maisonneuve-Rosemont Hospital Research Center, Montréal, Québec, Canada PubMed articlesGoogle scholar articles
  • Nils Koelling Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Andrew O M Wilkie Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Hugo Wurtele Maisonneuve-Rosemont Hospital Research Center, Montréal, Québec, Canada PubMed articlesGoogle scholar articles
  • Arjan P M de Brouwer Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Jorge Oliveira Centre for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Universidade do Porto, Porto, PortugalUnIGENe, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Maria J Nabais Sá, Department of Human Genetics (route 836), Radboud University Medical Center, P.O. box 9101, 6500 HB, Nijmegen, The Netherlands; maria.nabaissa{at}gmail.com
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Citation

Nabais Sá MJ, Miller KA, McQuaid M, et al
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Publication history

  • Received November 5, 2020
  • Accepted July 14, 2021
  • First published August 5, 2021.

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