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Article

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Clinical genetics - 1 Jun 2012

Stark Z, Gillessen-Kaesbach G, Ryan M M, Cirstea I C, Gremer L, Ahmadian M R, Savarirayan R, Zenker M

Abstract excerpt

Noonan and Cardio-facio-cutaneous (CFC) syndromes are characterized by typical dysmorphic features, cardiac defects, short stature, variable ectodermal anomalies, and intellectual disability. Both belong to the Ras/mitogen-activated protein kinase pathway group of disorders and clinical features overlap other related conditions, notably LEOPARD and Costello syndromes. KRAS mutations account for about 2% of...

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Source

Identifiers

PMID: 21797849
DOI: 10.1111/j.1399-0004.2011.01754.x

Genes

KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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