Choreoathetosis with hypothyroidism and neonatal respiratory distress is an autosomal dominant disorder caused by mutations of the NKX2-1 gene.
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Devriendt K et al. (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. |
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Iwatani N et al. (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. |
3. |
Pohlenz J et al. (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. |
4. |
Krude H et al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. |
5. |
Doyle DA et al. (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. |
6. |
Asmus F et al. (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. |
7. |
Carré A et al. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. |
8. |
Thorwarth A et al. (2014) Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. |
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OMIM.ORG article Omim 610978 |
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Orphanet article Orphanet ID 209905 |