Choreoathetosis with hypothyroidism and neonatal respiratory distress

Devriendt K et al. (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

Iwatani N et al. (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.

Pohlenz J et al. (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

Krude H et al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Doyle DA et al. (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

Asmus F et al. (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

Carré A et al. (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Thorwarth A et al. (2014) Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

OMIM.ORG article

Orphanet article