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. 2005 Oct;37(10):1038-40.
doi: 10.1038/ng1641. Epub 2005 Sep 18.

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki  1 , Tetsuya Niihori, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Yukichi Tanaka, Mirella Filocamo, Kumi Kato, Yoichi Suzuki, Shigeo Kure, Yoichi Matsubara
Affiliations

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki et al. Nat Genet. 2005 Oct.

Abstract

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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