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Original article
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Authors

  • Wilhelmina S Kerstjens-Frederikse Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Ernie M H F Bongers Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Marcus T R Roofthooft Department of Pediatric Cardiology, National Referral Center for Pediatric Pulmonary Hypertension, Center for Congenital Heart Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Edward M Leter Department of Genetics, VU Medical Center, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • J Menno Douwes Department of Pediatric Cardiology, National Referral Center for Pediatric Pulmonary Hypertension, Center for Congenital Heart Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Arie Van Dijk Department of Cardiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Anton Vonk-Noordegraaf Department of Respiratory Medicine, VU Medical Center, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Krista K Dijk-Bos Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Lies H Hoefsloot Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Elke S Hoendermis Department of Cardiology, Center for Congenital Heart Diseases University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Johan J P Gille Department of Genetics, VU Medical Center, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Birgit Sikkema-Raddatz Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Robert M W Hofstra Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Rolf M F Berger Department of Pediatric Cardiology, National Referral Center for Pediatric Pulmonary Hypertension, Center for Congenital Heart Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Wilhelmina S Kerstjens-Frederikse, Department of Genetics, University of Groningen, University Medical Center Groningen, UMCG, P.O. Box 30.001, 9700RB Groningen, The Netherlands; w.s.kerstjens{at}umcg.nl
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Citation

Kerstjens-Frederikse WS, Bongers EMHF, Roofthooft MTR, et al
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
Journal of Medical Genetics 2013;50:500-506.

Publication history

  • Received December 5, 2012
  • Revised March 13, 2013
  • Accepted March 19, 2013
  • First published April 16, 2013.
Online issue publication 
July 29, 2016

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