A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
| Autor: | Pen, Anja E., Nyegaard, Mette, Fang, Mingyan, Jiang, Hui, Christensen, Rikke, Mølgaard, Henning, Andersen, Henning, Ulhøi, Benedicte Parm, Østergaard, John R., Væth, Signe, Sommerlund, Mette, de Brouwer, Arjan P.M., Zhang, Xiuqing, Jensen, Uffe B. |
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| Zdroj: | In European Journal of Medical Genetics April 2015 58(4):222-229 |
| Databáze: | ScienceDirect |
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