Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

The occurrence of neurological symptoms and developmental delay in patients affected by congenital hypothyroidism (CH) has been attributed to the lack of thyroid hormone in the developing CNS. Accordingly, after the introduction of neonatal screening programs for CH, which allowed early and adequate...

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Veröffentlicht in:	The Journal of clinical investigation 2002-02, Vol.109 (4), p.475-480
Hauptverfasser:	Krude, Heiko, Schütz, Barbara, Biebermann, Heike, von Moers, Arpad, Schnabel, Dirk, Neitzel, Heidi, Tönnies, Holger, Weise, Dagmar, Lafferty, Antony, Schwarz, Siegfried, DeFelice, Mario, von Deimling, Andreas, van Landeghem, Frank, DiLauro, Roberto, Grüters, Annette
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Sequence Animals Basal Ganglia - pathology Basal Ganglia - physiopathology Base Sequence Child, Preschool Chorea - etiology Chorea - genetics Congenital Hypothyroidism DNA - genetics DNA Mutational Analysis Heterozygote Humans Hypothyroidism - etiology Hypothyroidism - genetics Infant Lung Diseases - etiology Lung Diseases - genetics Mice Molecular Sequence Data Mutation NKX2-1 gene Nuclear Proteins - deficiency Nuclear Proteins - genetics Syndrome Thyroid Nuclear Factor 1 Transcription Factors - deficiency Transcription Factors - genetics
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