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Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

Neurofibromatosis type I (NF1) microdeletion syndrome, accounting for 5–11% of NF1 patients, is caused by the heterozygous deletion of NF1 and a variable number of flanking genes in the 17q11.2 region. This syndrome is characterized by more severe symptoms than those shown by patients with intrageni...

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Detalles Bibliográficos
Autores principales: Tritto, Viviana, Grilli, Federico, Milani, Donatella, Riva, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319651/
https://www.ncbi.nlm.nih.gov/pubmed/37145209
http://dx.doi.org/10.1007/s10048-023-00718-8