Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies

Defective repair of DNA when heterozygous leads to Lynch syndrome (LS) which is inherited in an autosomal dominant fashion. When homozygous, defective repair of DNA leads to constitutional mismatch repair deficiency syndrome (CMMRD), inherited in an autosomal recessive fashion with a predisposition...

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Detalles Bibliográficos
Autores principales: Bin Naeem, Sameen, Ullah, Naqib, Jhatial, Mussadique Ali, Muzaffar, Shakeel, Abbas, Mansoor, Iftikhar, Imran, Jameel, Ahsan, Masood Sheikh, Rizwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423501/
https://www.ncbi.nlm.nih.gov/pubmed/37581139
http://dx.doi.org/10.7759/cureus.41870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423501/
https://www.ncbi.nlm.nih.gov/pubmed/37581139
http://dx.doi.org/10.7759/cureus.41870

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