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Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein ele...

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Detalles Bibliográficos
Autores principales: Paul, Chandramallika, Chakraborty, Subhosmito, Chakraborty, Sarit, Goswami, Kalyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752390/
https://www.ncbi.nlm.nih.gov/pubmed/33363830
http://dx.doi.org/10.1002/ccr3.3249