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New disease loci
Original article
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

Authors

  • Aleksander Jamsheer Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland NZOZ Center for Medical Genetics GENESIS, Poznan, Poland PubMed articlesGoogle scholar articles
  • Tomasz Zemojtel Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland PubMed articlesGoogle scholar articles
  • Mateusz Kolanczyk Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Sigmar Stricker Max Planck Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Jochen Hecht Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Peter Krawitz Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Sandra C Doelken Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Renata Glazar NZOZ Center for Medical Genetics GENESIS, Poznan, Poland PubMed articlesGoogle scholar articles
  • Magdalena Socha Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland PubMed articlesGoogle scholar articles
  • Stefan Mundlos Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Aleksander Jamsheer, Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55 Street, pav. 15, Poznan 60-352, Poland; jamsheer{at}wp.pl and Professor Stefan Mundlos, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany; stefan.mundlos{at}charite.de
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Citation

Jamsheer A, Zemojtel T, Kolanczyk M, et al
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion
Journal of Medical Genetics 2013;50:579-584.

Publication history

  • Received March 13, 2013
  • Revised April 8, 2013
  • Accepted May 1, 2013
  • First published May 24, 2013.
Online issue publication 
April 27, 2016

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