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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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Ferrari, Luca, Mangano, Eleonora, Bonati, Maria Teresa, Monterosso, Ilaria, Capitanio, Daniele, Chiappori, Federica, Brambilla, Ilaria, Gelfi, Cecilia, Battaglia, Cristina, Bordoni, Roberta, Riva, Paola
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608271/
https://ncbi.nlm.nih.gov/pubmed/32514133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0658-0
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