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Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

We describe a case of a boy with neurodevelopmental delay and a diffuse large B-cell lymphoma (DLBCL) in whom we discovered a germline de novo 2p16.3 deletion including MSH6 and part of the FBXO11 gene. A causative role for MSH6 in cancer development was excluded based on tumor characteristics. The...

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Detalles Bibliográficos
Autores principales: van Engelen, N., van Dijk, F., Waanders, E., Buijs, A., Vermeulen, M. A., Loeffen, J. L. C., Kuiper, R. P., Jongmans, M. C. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484184/
https://www.ncbi.nlm.nih.gov/pubmed/33811277
http://dx.doi.org/10.1007/s10689-021-00244-2