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Article

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

American journal of medical genetics. Part A - 1 Jul 2018

Geoghegan Sarah, King Graham, Henchliffe Jennifer, Ramsden Simon C, Barry Raymond J, Green Andrew J, O'Connell Susan M

Abstract excerpt

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by intellectual disability, congenital heart defects, a characteristic facial appearance, gastro-intestinal complications, ectodermal abnormalities and growth failure. The RASopathies result from germline mutations in the Ras/Mitogen-activated-protein-kinase (MAPK) pathway. CFC is associated with mutations in BRAF, KRAS, MEK1 and MEK2. CFC has been...

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Identifiers

PMID: 29704308
DOI: 10.1002/ajmg.a.38725

Genes

BRAF
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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