Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Por Thorwarth, Anne, Schnittert-Hübener, Sarah, Schrumpf, Pamela, Müller, Ines, Jyrch, Sabine, Dame, Christof, Biebermann, Heike, Kleinau, Gunnar, Katchanov, Juri, Schuelke, Markus, Ebert, Grit, Steininger, Anne, Bönnemann, Carsten, Brockmann, Knut, Christen, Hans-Jürgen, Crock, Patricia, deZegher, Francis, Griese, Matthias, Hewitt, Jacqueline, Ivarsson, Sten, Hübner, Christoph, Kapelari, Klaus, Plecko, Barbara, Rating, Dietz, Stoeva, Iva, Ropers, Hans-Hilger, Grüters, Annette, Ullmann, Reinhard, Krude, Heiko
Publicado no J Med Genet (2014)