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Choreoathetosis with hypothyroidism and neonatal respiratory distress

Choreoathetosis with hypothyroidism and neonatal respiratory distress is an autosomal dominant disorder caused by mutations of the NKX2-1 gene.

Systematic

Hypothyroidism
Bamforth-Lazarus syndrome
Central hypothyroidism
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Congenital nongoitrous hypothyroidism
Neonatal diabetes mellitus with congenital hypothyroidism
Thyroid dyshormonogenesis

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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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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9.

OMIM.ORG article

Omim 610978 external link
10.

Orphanet article

Orphanet ID 209905 external link
Update: Aug. 14, 2020
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