Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

Noonan syndrome (NS) is an autosomal-dominant disorder with variable expressivity and locus heterogeneity. Despite several RAS pathway genes were implicated in NS, 20–30% of patients remain without molecular diagnosis, suggesting the involvement of further genes or multiple mechanisms. Eight patient...

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Detalles Bibliográficos
Autores principales: Ferrari, Luca, Mangano, Eleonora, Bonati, Maria Teresa, Monterosso, Ilaria, Capitanio, Daniele, Chiappori, Federica, Brambilla, Ilaria, Gelfi, Cecilia, Battaglia, Cristina, Bordoni, Roberta, Riva, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608271/
https://www.ncbi.nlm.nih.gov/pubmed/32514133
http://dx.doi.org/10.1038/s41431-020-0658-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608271/
https://www.ncbi.nlm.nih.gov/pubmed/32514133
http://dx.doi.org/10.1038/s41431-020-0658-0

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