RARE-55. CHALLENGES AND SPECIFIC STRATEGIES FOR CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME IN LOW RESOURCE SETTINGS. ON BEHALF OF THE INTERNATIONAL RRD CONSORTIUM IN LOW RESOURCE SETTINGS PANEL

Germline biallelic mutations in one of the mismatch repair genes (MSH2/MSH6/MLH1/PMS2 results in constitutional mismatch repair deficiency (CMMRD), a condition associated with multiple tumors arising from multiple organs during childhood, and these individuals rarely reach adulthood. The paucity of...

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Detalles Bibliográficos
Autores principales: Kebudi, Rejin, N, Nisreen Amayiri, Abedalthagafi, Malak, Rana, Asim Noor, Kirmani, Slman, Musthaq, Naureen, Lamki, Zakiya Al, El Houdzi, Jamilla, Yazıcı, Hulya, El-Naggar, S, Edwards, Melissa, Bianchi, Vanessa, Durno, Carol, Tabori, Uri, Bouffet, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Craniopharyngioma and Rare Tumors
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715099/
http://dx.doi.org/10.1093/neuonc/noaa222.765

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