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

• Main Authors: Céline Delestrain (Author), Abdel Aissat (Author), Elodie Nattes (Author), Isabelle Gibertini (Author), Valérie Lacroze (Author), Stéphanie Simon (Author), Xavier Decrouy (Author), Alix de Becdelièvre (Author), Pascale Fanen (Author), Ralph Epaud (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...