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Article

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

Clinical genetics - 1 Jun 2013

Goodwin A F, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss L A, Tidyman W E, Klein O D, Rauen K A

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway that is downstream of receptor tyrosine kinase (RTK) signaling. RTK signaling is known to play a central role in craniofacial and dental...

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Identifiers

PMID: 22946697
DOI: 10.1111/cge.12005
PMCID: PMC4115672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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