Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review

BackgroundNKX2-1-related disorders (NKX2-1-RD) encompass a spectrum of conditions arising from pathogenic deletions or variants in the NKX2-1 gene, crucial for thyroid, lung, and brain development. Respiratory manifestations in NKX2-1-RD range from neonatal respiratory distress to severe lung diseas...

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Main Authors: Katarzyna Michel, Alba Ruiz-Ramos, Laia Nou-Fontanet, Carmen Martín-Gomez, Beatriz Carmona Hidalgo, Rebeca Isabel-Gomez, María Piedad Rosario-Lozano, Rocio Rodriguez-Lopez, Thomas O. F. Wagner, Juan Antonio Blasco-Amaro, Matthias Griese, Juan Darío Ortigoza-Escobar
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Medicine
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Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1507513/full
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