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 journal/Conference contribution in journal/Contribution to newspaperJournal article

  • Anja E Pen
  • Mette Nyegaard
  • Mingyan Fang, BGI-Shenzhen, Shenzhen, China., ChinaHui Jiang, BGI-Shenzhen, Shenzhen, China., Shenzhen Key Laboratory of Genomics, The Guangdong Enterprise Key Laboratory of Human Disease Genomics, China
  • Rikke Christensen
  • Henning Mølgaard
  • Henning Andersen
  • Benedicte Parm Ulhøi, Denmark
  • John R 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, NetherlandsXiuqing Zhang, BGI-Shenzhen, Shenzhen, China., Shenzhen Key Laboratory of Genomics, The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Unknown
  • Uffe B Jensen
Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume58
Issue number4
Pages (from-to)222-229
Number of pages8
ISSN1769-7212
DOIs
StatePublished - Apr 2015

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