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Article

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

The Journal of clinical investigation - 1 Feb 2002

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

Abstract excerpt

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 treatment, an almost normal outcome for most CH patients could be achieved. However, a few patients did not reach...

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Identifiers

PMID: 11854319
DOI: 10.1172/JCI14341
PMCID: PMC150790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.PMID 11854319Read ↗

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