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Frequent cleft lip and palate in families with pathogenic germline CDH1 variants

Pathogenic and likely pathogenic (P/LP) germline variants in the tumor suppressor gene CDH1 (E-cadherin) result in increased lifetime risk of diffuse-type gastric cancer and lobular breast cancer. CDH1 variants are also associated with hereditary cleft lip and palate (CLP), the mechanism of which is...

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Detalles Bibliográficos
Autores principales: Green, Benjamin L., Fasaye, Grace-Ann, Samaranayake, Sarah G., Duemler, Anna, Gamble, Lauren A., Davis, Jeremy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554356/
https://www.ncbi.nlm.nih.gov/pubmed/36246616
http://dx.doi.org/10.3389/fgene.2022.1012025