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Article

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Human molecular genetics - 15 Jun 2009

Carré Aurore, Szinnai Gabor, Castanet Mireille, Sura-Trueba Sylvia, Tron Elodie, Broutin-L'Hermite Isabelle, Barat Pascal, Goizet Cyril, Lacombe Didier, Moutard Marie-Laure, Raybaud Christine, Raynaud-Ravni Catherine, Romana Serge, Ythier Hubert, Léger Juliane, Polak Michel

Abstract excerpt

Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19336474
DOI: 10.1093/hmg/ddp162

Genes

PAX8
TTF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19336474-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.PMID 19336474Read ↗

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

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