Journal
NATURE GENETICS
Volume 37, Issue 10, Pages 1038-1040Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1641
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- Telethon [GTF04002] Funding Source: Medline
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Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various tumors. Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors.
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