Cargando…
An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
Autores principales: | Macklin-Mantia, Sarah K., Riegert-Johnson, Douglas L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391027/ https://www.ncbi.nlm.nih.gov/pubmed/32754288 http://dx.doi.org/10.1186/s13053-020-00149-8 |
Ejemplares similares
-
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
por: Macklin- Mantia, Sarah K., et al.
Publicado: (2020) -
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
por: Broekema, M. F., et al.
Publicado: (2023) -
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature
por: Roht, Laura, et al.
Publicado: (2023) -
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer
por: Leclerc, Julie, et al.
Publicado: (2022) -
The Adenomatous polyposis coli tumour suppressor is essential for Axin complex assembly and function and opposes Axin's interaction with Dishevelled
por: Mendoza-Topaz, Carolina, et al.
Publicado: (2011)