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

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


ConferenceESHG 2015
CountryUnited Kingdom

    Research areas

  • FHL1

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ID: 95197676