Article
Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
American journal of medical genetics. Part C, Seminars in medical genetics - 15 May 2011
Allanson Judith E, Annerén Göran, Aoki Yoki, Armour Christine M, Bondeson Marie-Louise, Cave Helene, Gripp Karen W, Kerr Bronwyn, Nystrom Anna-Maja, Sol-Church Katia, Verloes Alain, Zenker Martin
Abstract excerpt
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...
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