Article
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Journal of medical genetics - 1 Jun 2014
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
Abstract excerpt
BACKGROUND: NKX2-1 encodes a transcription factor with large impact on the development of brain, lung and thyroid. Germline mutations of NKX2-1 can lead to dysfunction and malformations of these organs. Starting from the largest coherent collection of patients with a suspected phenotype to date, we systematically evaluated frequency, quality and spectrum of phenotypic consequences of NKX2-1 mutations. METHODS:...
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