The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumors. A high degree of clinical awareness...

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Detalles Bibliográficos
Autores principales: Carrato, Cristina, Sanz, Carolina, Muñoz-Mármol, Ana María, Blanco, Ignacio, Pineda, Marta, Del Valle, Jesús, Dámaso, Estela, Esteller, Manel, Musulen, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124255/
https://www.ncbi.nlm.nih.gov/pubmed/33924881
http://dx.doi.org/10.3390/ijms22094629

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124255/
https://www.ncbi.nlm.nih.gov/pubmed/33924881
http://dx.doi.org/10.3390/ijms22094629

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