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Article

Characterization of a novel KRAS mutation identified in Noonan syndrome.

American journal of medical genetics. Part A - 1 Mar 2012

Razzaque Md Abdur, Komoike Yuta, Nishizawa Tsutomu, Inai Kei, Furutani Michiko, Higashinakagawa Toru, Matsuoka Rumiko

Abstract excerpt

Noonan syndrome (NS) is the most common non-chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathways cause about 70% of NS cases with a KRAS mutation present in about 2%. In a cohort of...

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Source

Identifiers

PMID: 22302539
DOI: 10.1002/ajmg.a.34419

Genes

KRAS

Variants

Provenance

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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