Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

BACKGROUND: Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these wit...

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Detalles Bibliográficos
Autores principales: Lung, Mei Sim, Mitchell, Catherine A., Doyle, Maria A., Lynch, Andrew C., Gorringe, Kylie L., Bowtell, David D. L., Campbell, Ian G., Trainer, Alison H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195761/
https://www.ncbi.nlm.nih.gov/pubmed/32357859
http://dx.doi.org/10.1186/s12885-020-6705-y

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