Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

Backgroundto perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1DEL) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1DUP) identified in a subject with classi...

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Bibliographic Details
Main Authors: Céline Delestrain, Abdel Aissat, Elodie Nattes, Isabelle Gibertini, Valérie Lacroze, Stéphanie Simon, Xavier Decrouy, Alix de Becdelièvre, Pascale Fanen, Ralph Epaud
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
child
NKX2-1
lung
surfactant protein
thyroid
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.978598/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.978598/full

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