Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes

Neurofibromatosis type 2 is an autosomal dominant tumor-prone disorder mainly caused by NF2 point mutations or intragenic deletions. Few individuals with a complex phenotype and 22q12 microdeletions have been described. The 22q12 microdeletions’ pathogenic effects at the genetic and epigenetic level...

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Detalles Bibliográficos
Autores principales: Tritto, Viviana, Eoli, Marica, Paterra, Rosina, Redaelli, Serena, Moscatelli, Marco, Rusconi, Francesco, Riva, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456353/
https://www.ncbi.nlm.nih.gov/pubmed/36077416
http://dx.doi.org/10.3390/ijms231710017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456353/
https://www.ncbi.nlm.nih.gov/pubmed/36077416
http://dx.doi.org/10.3390/ijms231710017

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