choreoathetosis

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Bönnemann, Knut Brockmann, Hans-Jürgen Christen, Patricia Crock, Francis deZegher, Matthias Griese, Jacqueline Hewitt, Sten Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude

Journal of Medical Genetics Jun 2014, 51 (6) 375-387; DOI: 10.1136/jmedgenet-2013-102248

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choreoathetosis