Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
作者： Tetsuya Niihori , Yoko Aoki , Yoko Narumi , Giovanni Neri , Hélène Cavé
DOI: 10.1038/NG1749
关键词:
摘要: Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan Costello syndrome, which are caused mutations in PTPN11 HRAS, respectively. In 43 individuals CFC, we identified two heterozygous KRAS three eight BRAF 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway common molecular basis for related disorders.
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