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Genotype-phenotype correlations
Original article
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
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Authors

  • Nienke J H van Os Department of Pediatric Neurology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  • Luciana Chessa Department of Clinical and Molecular Medicine, Sapienza Università di Roma, Rome, Italy PubMed articlesGoogle scholar articles
  • Corry M R Weemaes Department of Pediatrics, Pediatric Infectious Disease and Immunology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  • Marcel van Deuren Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  • Alice Fiévet INSERM UMR 830, Institut de recherche, Institut Curie, PSL Research University, Paris, France Service de Génétique, Institut Curie Hôpital, Paris, France PubMed articlesGoogle scholar articles
  • Judith van Gaalen Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  • Nizar Mahlaoui French National Reference Center for Primary Immune Deficiencies (CEREDIH), Pediatric Immuno-Haematology and Rheumatology Unit, Biostatistics Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Imagine Institute, Paris, France INSERM UMR 1163, Sorbonne Paris Cité, Imagine Institute, Paris Descartes University, Paris, France PubMed articlesGoogle scholar articles
  • Nel Roeleveld Department of Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Christoph Schrader Department of Neurology, Hannover Medical School, Hannover, Germany PubMed articlesGoogle scholar articles
  • Detlev Schindler Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany PubMed articlesGoogle scholar articles
  • Alexander M R Taylor School for Cancer Studies, University of Birmingham, Birmingham, UK PubMed articlesGoogle scholar articles
  • Bart P C Van de Warrenburg Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  • Thilo Dörk Gynaecology Research Unit, Hannover Medical School, Hannover, Germany PubMed articlesGoogle scholar articles
  • Michèl A A P Willemsen Department of Pediatric Neurology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Nienke J H van Os, Department of Neurology, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands; Nienke.vanOs{at}radboudumc.nl
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Citation

van Os NJH, Chessa L, Weemaes CMR, et al
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
Journal of Medical Genetics 2019;56:308-316.

Publication history

  • Received July 25, 2018
  • Revised November 21, 2018
  • Accepted December 19, 2018
  • First published February 28, 2019.
Online issue publication 
April 25, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.