Article
Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.
Clinical dysmorphology - 1 Jul 2007
Tang Ben, Reardon Willie, Black Graeme C, Kerr Bronwyn A
Abstract excerpt
CFC syndrome is a genetically heterogenous condition. Missense mutations have been identified in BRAF, KRAS, MEK1 and MEK2. We have reported here a KRAS mutation in a baby girl with an early clinical diagnosis of CFC syndrome associated with a large ulcerating hemangioma. Although ectodermal abnormalities have been described in all individuals with this condition, features such as ichthyosis and hemangioma have...
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