A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia

BACKGROUND: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regu...

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Detalles Bibliográficos
Autores principales: Broekema, M. F., Redeker, E. J. W., Uiterwaal, M. T., van Hest, L. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464116/
https://www.ncbi.nlm.nih.gov/pubmed/37626374
http://dx.doi.org/10.1186/s13053-023-00260-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464116/
https://www.ncbi.nlm.nih.gov/pubmed/37626374
http://dx.doi.org/10.1186/s13053-023-00260-6

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