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

Anne Thorwarth, Sarah Schnittert-Huebener, Pamela Schrumpf, Ines Mueller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Boennemann, Knut Brockmann, Hans-Juergen Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten IvarssonChristoph Huebner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grueters, Reinhard Ullmann, Heiko Krude

Research output: Contribution to journalArticlepeer-review

48 Citations (SciVal)

Fingerprint

Dive into the research topics of 'Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum'. Together they form a unique fingerprint.

Medicine & Life Sciences