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HGG-40. NF1 mosaicism in a CMMRD-patient with a glioblastoma
Constitutional Mismatch Repair Deficiency (CMMRD) and Neurofibromatosis type 1 (NF1) are brain tumor predisposing syndromes associated with café-au-lait macules (CALM). Due to this overlap, establishing the differential diagnosis can be difficult, but remains crucial as treatments and surveillance p...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165169/ http://dx.doi.org/10.1093/neuonc/noac079.255 |