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Article

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

American journal of human genetics - 1 Jul 2006

Carta Claudio, Pantaleoni Francesca, Bocchinfuso Gianfranco, Stella Lorenzo, Vasta Isabella, Sarkozy Anna, Digilio Cristina, Palleschi Antonio, Pizzuti Antonio, Grammatico Paola, Zampino Giuseppe, Dallapiccola Bruno, Gelb Bruce D, Tartaglia Marco

Abstract excerpt

Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematologic defects. NS is an autosomal dominant trait and is genetically heterogeneous. Gain of function of SHP-2, a protein tyrosine phosphatas...

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Identifiers

PMID: 16773572
DOI: 10.1086/504394
PMCID: PMC1474118

Genes

KRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16773572-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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