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

Research output: Research - peer-reviewJournal article

  • Anja E Pen
  • Mette Nyegaard
  • Mingyan Fang
    Mingyan FangBGI-Shenzhen, Shenzhen, China.China
  • Hui Jiang
    Hui JiangBGI-Shenzhen, Shenzhen, China.Shenzhen Key Laboratory of GenomicsThe Guangdong Enterprise Key Laboratory of Human Disease GenomicsChina
  • Rikke Christensen
  • Henning Mølgaard
  • Henning Andersen
  • Benedicte Parm Ulhøi
    Benedicte Parm UlhøiDenmark
  • John R Østergaard
  • Signe Væth
  • Mette Sommerlund
  • Arjan P M de Brouwer
    Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical CenterNetherlands
  • Xiuqing Zhang
    Xiuqing ZhangBGI-Shenzhen, Shenzhen, China.Shenzhen Key Laboratory of GenomicsThe Guangdong Enterprise Key Laboratory of Human Disease GenomicsUnknown
  • 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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