Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
全面的基因分型和临床特征分析揭示了 27 种新的 NKX2-1 突变，并扩展了表型谱
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2013-102248
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
