| 1 | BHC, NKX2-1
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| Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
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| Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA.
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| Dev Med Child Neurol 56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.
2014
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| 2 | BHC, NKX2-1, TGDRD
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| Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
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| Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.
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| Hum Mol Genet 18(12):2266-76. Epub 2009 Mar 31. 2009
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| 3 | BHC, NKX2-1, TITF1
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| Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
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| Doyle DA, Gonzalez I, Thomas B, Scavina M.
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| J Pediatr 145(2):190-3. 2004
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| 4 | BHC, NKX2-1
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| Mutations in TITF-1 are associated with benign hereditary chorea.
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| Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Gruters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P.
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| Hum Mol Genet 11(8):971-9. 2002
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| 5 | BHC, NKX2-1, TITF1
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| Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
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| Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A.
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| J Clin Invest 109(4):475-80. 2002
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| 6 | BHC
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| Benign hereditary chorea of early onset maps to chromosome 14q.
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| de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P.
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| Am J Hum Genet 66(1):136-42. 2000
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