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Article

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

European journal of human genetics : EJHG - 1 Oct 2020

Ferrari Luca, Mangano Eleonora, Bonati Maria Teresa, Monterosso Ilaria, Capitanio Daniele, Chiappori Federica, Brambilla Ilaria, Gelfi Cecilia, Battaglia Cristina, Bordoni Roberta, Riva Paola

Abstract excerpt

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 patients out of 60, negative for conventional NS mutation analysis, with heterogeneous NS phenotype were investigated by...

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Identifiers

PMID: 32514133
DOI: 10.1038/s41431-020-0658-0
PMCID: PMC7608271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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