Associated Papers
A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.
Tang X et al.
Italian Journal of Pediatrics, 2025
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
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
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