Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
|
| Materias: | |
| 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 |