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Article

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.

The Journal of clinical endocrinology and metabolism - 1 Jan 2009

Maquet Emilie, Costagliola Sabine, Parma Jasmine, Christophe-Hobertus Christiane, Oligny Luc L, Fournet Jean-Christophe, Robitaille Yves, Vuissoz Jean-Marc, Payot Antoine, Laberge Sophie, Vassart Gilbert, Van Vliet Guy, Deladoëy Johnny

Abstract excerpt

CONTEXT: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1(-/-) mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of...

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PMID: 18957494
DOI: 10.1210/jc.2008-1402

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.PMID 18957494Read ↗

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