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

Anja E Pen, Mette Nyegaard, Mingyan Fang, Hui Jiang, Rikke Christensen, Henning Mølgaard, Henning Andersen, Benedicte Parm Ulhøi, John R Østergaard, Signe Væth, Mette Sommerlund, Arjan P M de Brouwer, Xiuqing Zhang, Uffe B Jensen

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

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Biochemistry, Genetics and Molecular Biology