Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants

BACKGROUND: CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facial dysmorphisms, cardiovascular malformations and an increased risk of cancer de...

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Detalles Bibliográficos
Autores principales: Baccelli, Francesco, Leardini, Davide, Muratore, Edoardo, Messelodi, Daria, Bertuccio, Salvatore Nicola, Chiriaco, Maria, Cancrini, Caterina, Conti, Francesca, Castagnetti, Fausto, Pedace, Lucia, Pession, Andrea, Yoshimi, Ayami, Niemeyer, Charlotte, Tartaglia, Marco, Locatelli, Franco, Masetti, Riccardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484243/
https://www.ncbi.nlm.nih.gov/pubmed/36123612
http://dx.doi.org/10.1186/s40246-022-00414-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484243/
https://www.ncbi.nlm.nih.gov/pubmed/36123612
http://dx.doi.org/10.1186/s40246-022-00414-y

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