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Article

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

European journal of human genetics : EJHG - 1 Nov 2015

Moncini Silvia, Bonati Maria Teresa, Morella Ilaria, Ferrari Luca, Brambilla Riccardo, Riva Paola

Abstract excerpt

Noonan syndrome (NS) is a genetic condition characterized by congenital heart defects, short stature and characteristic facial features. We here present the case of a girl with moderate learning disabilities, delayed language development, craniofacial features and skin anomalies reminiscent of NS. After a mutation screening of the known NS genes PTPN11, SOS1, RAF1, KRAS, GRB2, BRAF and SHOC2 we found the...

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Source

Open in PubMed Open full text

Identifiers

PMID: 25712082
DOI: 10.1038/ejhg.2015.20
PMCID: PMC4613488

Genes

SOS1
BRAF
GRB2
KRAS
PTPN11
RAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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