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Developmental defects
Original article
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Authors

  • Nicolas Simonis Laboratoire de Bioinformatique des Génomes et des Réseaux (BiGRe), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Isabelle Migeotte Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Nelle Lambert Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Camille Perazzolo Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Deepthi C de Silva Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka PubMed articlesGoogle scholar articles
  • Boyan Dimitrov Department of Clinical Genetics, Guy's Hospital, London, UK PubMed articlesGoogle scholar articles
  • Claudine Heinrichs Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Sandra Janssens Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium PubMed articlesGoogle scholar articles
  • Bronwyn Kerr Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK PubMed articlesGoogle scholar articles
  • Geert Mortier Center for Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium PubMed articlesGoogle scholar articles
  • Guy Van Vliet Endocrinology Service and Research Center, Hôpital Sainte-Justine and Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada PubMed articlesGoogle scholar articles
  • Philippe Lepage Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Georges Casimir Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Marc Abramowicz Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles (ULB), Brussels, Belgium ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Guillaume Smits ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Catheline Vilain ULB Center of Human Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  1. Correspondence to Guillaume Smits, and Catheline Vilain, Department of Paediatrics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium; guillaume.smits{at}huderf.be and cavilain{at}ulb.ac.be
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Citation

Simonis N, Migeotte I, Lambert N, et al
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Journal of Medical Genetics 2013;50:585-592.

Publication history

  • Received February 13, 2013
  • Revised May 13, 2013
  • Accepted May 14, 2013
  • First published June 28, 2013.
Online issue publication 
July 29, 2016

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