AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

BACKGROUND: Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. METHODS: Data were collected via a structured questionnaire. Sequencing w...

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Detalles Bibliográficos
Autores principales: Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265056/
https://www.ncbi.nlm.nih.gov/pubmed/36860143
http://dx.doi.org/10.1002/mgg3.2157

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