Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes

Noonan syndrome (NS) is an autosomal dominant multisystem disorder, characterized by variable expressivity and locus heterogeneity, being caused by mutations in one of a subset of RAS pathway genes. Nevertheless, for 20–30% of patients it is not possible to provide molecular diagnosis, suggesting th...

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Detalles Bibliográficos
Autores principales: Tritto, Viviana, Capitanio, Daniele, Gelfi, Cecilia, Riva, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959625/
https://www.ncbi.nlm.nih.gov/pubmed/36835447
http://dx.doi.org/10.3390/ijms24044035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959625/
https://www.ncbi.nlm.nih.gov/pubmed/36835447
http://dx.doi.org/10.3390/ijms24044035

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