Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features

We describe a patient with constitutional mismatch repair-deficiency (CMMR-D) in whom the syndrome started at age 10 with the development of multiple adenomas in the large bowel. In the successive 25 years, four malignancies developed in different organs (rectum, ileum, duodenum, and lymphoid tissue...

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Detalles Bibliográficos
Autores principales: Pedroni, Monica, Ponz de Leon, Maurizio, Reggiani Bonetti, Luca, Rossi, Giuseppina, Viel, Alessandra, Urso, Emanuele Damiano Luca, Roncucci, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690098/
https://www.ncbi.nlm.nih.gov/pubmed/36360190
http://dx.doi.org/10.3390/genes13111953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690098/
https://www.ncbi.nlm.nih.gov/pubmed/36360190
http://dx.doi.org/10.3390/genes13111953

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