Associated Papers
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A et al.
Journal of Medical Genetics, 2014
Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
Nettore IC et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
Costa MC et al.
Neurogenetics, 2005
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