A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review

The constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and challenging condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and leads to multiorgan cancers. Therefore, we report the first case of advanced juvenile rectal cancer related to CMMRD...

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Detalles Bibliográficos
Autores principales: AlAli, Mohammed N, Zikry, Abdulrahman H, AlShammari, Sulaiman A, Zayed, Mohammed Ayesh, Alswayyed, Mohammed, AlObeed, Omar A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138497/
https://www.ncbi.nlm.nih.gov/pubmed/35651417
http://dx.doi.org/10.7759/cureus.24615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138497/
https://www.ncbi.nlm.nih.gov/pubmed/35651417
http://dx.doi.org/10.7759/cureus.24615

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