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

Nenhuma Miniatura disponível
Data
2006-03-01
Autores
Niihori, T.
Aoki, Y.
Narumi, Y.
Neri, G.
Cave, H.
Verloes, A.
Okamoto, N.
Hennekam, RCM
Gillessen-Kaesbach, G.
Wieczorek, D.
Orientadores
Tipo
Artigo
Título da Revista
ISSN da Revista
Título de Volume
Resumo
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.
Descrição
Citação
Nature Genetics. New York: Nature Publishing Group, v. 38, n. 3, p. 294-296, 2006.
Palavras-chave
Coleções