Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

  title={Cardio-facio-cutaneous syndrome: does genotype predict phenotype?},
  author={Judith Allanson and G{\"o}ran Ann{\'e}ren and Yoki Aoki and Christine M. Armour and Marie-Louise Bondeson and H{\'e}l{\`e}ne Cav{\'e} and Karen W. Gripp and Bronwyn A. Kerr and A Nystrom and Katia Sol-Church and Alain Verloes and Martin Zenker},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={157C 2},
Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found. Cardinal features of CFC include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities… CONTINUE READING


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