• DOI:10.1038/ng1749
Corpus ID: 28915489

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

@article{Niihori2006GermlineKA,
  title={Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome},
  author={T. Niihori and Y. Aoki and Y. Narumi and G. Neri and H. Cav{\'e} and A. Verloes and N. Okamoto and R. C. Hennekam and G. Gillessen‐Kaesbach and D. Wieczorek and M. I. Kavamura and K. Kurosawa and H. Ohashi and L. Wilson and D. Heron and D. Bonneau and G. Corona and T. Kaname and K. Naritomi and C. Baumann and N. Matsumoto and K. Kato and S. Kure and Y. Matsubara},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={294-296}
}

• T. Niihori, Y. Aoki, +21 authors Y. Matsubara
• Published 2006
• Biology, Medicine
• Nature Genetics

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… Expand

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