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A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

Research output: Contribution to conferencePosterResearch

  • Anja Pen
  • ,
  • Mette Nyegaard
  • Mingyan Fang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., China
  • Hui Jiang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., China
  • Rikke Christensen
  • Henning Mølgaard
  • Henning Andersen, Denmark
  • Benedicte Parm Ulhøi, Denmark
  • John Rosendahl Østergaard, Denmark
  • Signe Væth
  • Mette Sommerlund
  • Arjan P.M. de Brouwer, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Netherlands
  • Xuiqing Zhang, BGI-Tech, BGI-Shenzhen, Shenzhen 518083, China., China
  • Uffe Birk Jensen
Original languageEnglish
Publication year6 Jun 2015
Publication statusPublished - 6 Jun 2015
EventESHG 2015: European Society of Human Genetics - Glasgow, United Kingdom
Duration: 6 Jun 20159 Jul 2015

Conference

ConferenceESHG 2015
CountryUnited Kingdom
CityGlasgow
Period06/06/201509/07/2015

    Research areas

  • FHL1

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ID: 95197676