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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...

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Detalles Bibliográficos
Autores principales: Guerrini-Rousseau, Lea, Cabaret, Odile, Muleris, Martine, Vidaud, Dominique, Cotteret, Sophie, Rouleau, Etienne, de Beaumais, Tiphaine Adam, Varlet, Pascale, Morscher, Raphael, Abbou, Samuel, Dufour, Christelle, Brugieres, Laurence, Grill, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165169/
http://dx.doi.org/10.1093/neuonc/noac079.255