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

Michel, Katarzyna; Ruiz-Ramos, Alba; Nou-Fontanet, Laia; Martín-Gomez, Carmen; Carmona Hidalgo, Beatriz; Isabel-Gomez, Rebeca; Piedad Rosario-Lozano, María; Rodriguez-Lopez, Rocio; O. F. Wagner, Thomas; Antonio Blasco-Amaro, Juan; Griese, Matthias; Darío Ortigoza-Escobar, Juan

doi:10.3389/fmed.2025.1507513

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

Shared by NobleBlocks on May 6, 2025 • 12:00 AM UTC

Authors:

Katarzyna Michel

Alba Ruiz-Ramos

Laia Nou-Fontanet

Abstract

Background NKX2-1 -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 d...

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