Germline mutations in HRAS proto-oncogene cause Costello syndrome
作者： Yoko Aoki , Tetsuya Niihori , Hiroshi Kawame , Kenji Kurosawa , Hirofumi Ohashi
DOI: 10.1038/NG1641
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摘要: Costello syndrome is a multiple congenital anomaly and mental retardation characterized by coarse face, loose skin, cardiomyopathy predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 13 affected individuals, all which were previously reported as somatic oncogenic various Our observations suggest that germline perturb human development increase susceptibility
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