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Chromosomal rearrangements
Original article
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Authors

  • Bjørt K Kragesteen Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany Department of Immunology, Weizmann Institute of Science, Rehovot, Israel PubMed articlesGoogle scholar articles
  • Francesco Brancati Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy Department of Life, Health and Environmental Sciences, University of L’Aquila, L’Aquila, Italy PubMed articlesGoogle scholar articles
  • Maria Cristina Digilio Medical Genetics, Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy PubMed articlesGoogle scholar articles
  • Stefan Mundlos Institute for Medical and Human Genetics, University Medicine Berlin, Berlin, Germany Development and Disease Group, Max Planck Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Malte Spielmann Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany Institute for Medical and Human Genetics, University Medicine Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Malte Spielmann, Max-Planck-Institute for Molecular Genetics, Berlin 14195, Germany; spielmann{at}molgen.mpg.de
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Citation

Kragesteen BK, Brancati F, Digilio MC, et al
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome
Journal of Medical Genetics 2019;56:246-251.

Publication history

  • Received October 10, 2018
  • Revised December 14, 2018
  • Accepted January 7, 2019
  • First published February 2, 2019.
Online issue publication 
March 22, 2019

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