Associated Papers
Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).
Heidari MM et al.
Physiology International, 2022
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
Monti S et al.
Italian Journal of Pediatrics, 2015
Benign Hereditary Chorea: An Update.
Peall KJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Veneziano L et al.
Cerebellum (london, England), 2014
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
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
Costa MC et al.
Neurogenetics, 2005
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