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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

Publikation: Konferencebidrag › Poster › Forskning

  • Anja Pen
    • ,
  • Mette Nyegaard, Danmark
  • Mingyan Fang, Forensics Genomics International (FGI), BGI-Shenzhen, Shenzhen 518083, China., Kina
  • Hui Jiang, Forensics Genomics International (FGI), BGI-Shenzhen, Shenzhen 518083, China., Kina
  • Rikke Christensen
  • Henning Mølgaard
  • Henning Andersen, Danmark
  • Benedicte Parm Ulhøi, Danmark
  • John Rosendahl Østergaard
  • Signe Væth
  • Mette Sommerlund
  • Arjan P.M. de Brouwer, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Holland
  • Xuiqing Zhang, Forensics Genomics International (FGI), BGI-Shenzhen, Shenzhen 518083, China., Kina
  • Uffe Birk Jensen
OriginalsprogEngelsk
Udgivelsesår6 jun. 2015
StatusUdgivet - 6 jun. 2015
BegivenhedESHG 2015: European Society of Human Genetics - Glasgow, Storbritannien
Varighed: 6 jun. 2015 → 9 jul. 2015

Konference

KonferenceESHG 2015
LandStorbritannien
ByGlasgow
Periode06/06/2015 → 09/07/2015

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