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Article

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Journal of medical genetics - 1 Jul 2007

Søvik Oddmund, Schubbert Suzanne, Houge Gunnar, Steine Solrun J, Norgård Gunnar, Engelsen Bernt, Njølstad Pål R, Shannon Kevin, Molven Anders

Abstract excerpt

Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro-cardio-facio-cutaneous features. We describe two sisters, 46 and 31 years old, who presented with dysmorphic features, hypotonia, feeding difficulties, r...

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Source

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Identifiers

PMID: 17601930
DOI: 10.1136/jmg.2007.049361
PMCID: PMC2598016

Genes

HRAS
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17601930-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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