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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, BGI-Shenzhen, Kina Hui Jiang, BGI-Shenzhen, 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, BGI-Shenzhen, Kina Uffe Birk Jensen Originalsprog Engelsk Udgivelsesår 6 jun. 2015 Status Udgivet - 6 jun. 2015 Begivenhed ESHG 2015: European Society of Human Genetics - Glasgow, Storbritannien Varighed: 6 jun. 2015 → 9 jul. 2015
Konference ESHG 2015 Land Storbritannien By Glasgow Periode 06/06/2015 → 09/07/2015
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