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Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accurate diagnosis is challenging when a malignant brain tumor is the only tumor at p...

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Detalles Bibliográficos
Autores principales:	Onishi, Shumpei, Yamasaki, Fumiyuki, Kuraoka, Kazuya, Taguchi, Akira, Takayasu, Takeshi, Akagi, Kiwamu, Hinoi, Takao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843912/ https://www.ncbi.nlm.nih.gov/pubmed/36647049 http://dx.doi.org/10.1186/s12920-022-01403-9

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