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Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Author information

1
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

Abstract

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.

PMID:
16474404
DOI:
10.1038/ng1749
[Indexed for MEDLINE]

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