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

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

Biallelic germline mismatch repair (MMR) gene <i>(MLH1, MSH2, MSH6,</i> and <i>PMS2)</i> mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumor...

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Bibliographic Details
Main Authors: Cristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, Ignacio Blanco, Marta Pineda, Jesús Del Valle, Estela Dámaso, Manel Esteller, Eva Musulen
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
constitutional mismatch repair deficiency syndrome
MMR gene expression
immunohistochemistry
<i>MSH6</i> gene
Online Access:https://www.mdpi.com/1422-0067/22/9/4629

Internet

https://www.mdpi.com/1422-0067/22/9/4629

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