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Article

Germline expression of H-Ras(G12V) causes neurological deficits associated to Costello syndrome.

Genes, brain, and behavior - 1 Feb 2009

Viosca J, Schuhmacher A J, Guerra C, Barco A

Abstract excerpt

Costello syndrome (CS) is a rare congenital disorder caused by germline activation of H-Ras oncogenes. A mouse model of CS generated by introduction of an oncogenic Gly12Val mutation in the mouse H-Ras locus using homologous recombination in embryonic stem (ES) cells has been recently described. These mice phenocopied some of the abnormalities observed in patients with CS, including facial dysmorphia and...

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Identifiers

PMID: 18823404
DOI: 10.1111/j.1601-183X.2008.00443.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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