Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma

We here report the case of a 2-year-old patient with a primary central nervous system lymphoma of B-cell origin. Due to their past medical history of repeated respiratory tract infections and the marked chemotherapy-associated toxicity and infectious comorbidity, we suspected that the patient also s...

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Detalles Bibliográficos
Autores principales: Dörr, Jan R., Thorwarth, Anne, Mizia-Malarz, Agnieszka, Radke, Josefine, Tietze, Anna, Hernáiz-Driever, Pablo, Horn, Denise, Gratopp, Alexander, Eggert, Angelika, Deubzer, Hedwig E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229184/
https://www.ncbi.nlm.nih.gov/pubmed/34199532
http://dx.doi.org/10.3390/children8060469

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