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Article

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Respiratory medicine - 1 Aug 2017

Nattes Elodie, Lejeune Stephanie, Carsin Ania, Borie Raphael, Gibertini Isabelle, Balinotti Juan, Nathan Nadia, Marchand-Adam Sylvain, Thumerelle Caroline, Fauroux Brigitte, Bosdure Emmanuelle, Houdouin Veronique, Delestrain Celine, Louha MaleK, Couderc Remy, De Becdelievre Alix, Fanen Pascale, Funalot Benoit, Crestani Bruno, Deschildre Antoine, Dubus Jean-Christophe, Epaud Ralph

Abstract excerpt

We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients...

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Source

Identifiers

PMID: 28732825
DOI: 10.1016/j.rmed.2017.05.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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