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Article

NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2014

Shetty Vinutha B, Kiraly-Borri Cathy, Lamont Phillipa, Bikker Hennie, Choong Catherine S Y

Abstract excerpt

Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with primary hypothyroidism, respiratory distress, and neurological disorder. Two of the four patients presenting with the triad...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24129101
DOI: 10.1515/jpem-2013-0109

Genes

TTF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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