@article{1306d76a9a0b4eb09b5c576bee1f5439,
title = "Germline mutations in HRAS proto-oncogene cause Costello syndrome",
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.",
author = "Yoko Aoki and Tetsuya Niihori and Hiroshi Kawame and Kenji Kurosawa and Hirofumi Ohashi and Yukichi Tanaka and Mirella Filocamo and Kumi Kato and Yoichi Suzuki and Shigeo Kure and Yoichi Matsubara",
note = "Funding Information: We thank the individuals and their families for participating in this study; the doctors for referring the cases; the {\textquoteleft}{\textquoteleft}Diagnosi PrePostnatale Malattie Metaboliche{\textquoteright}{\textquoteright} Laboratory (G. Gaslini Institute) for providing us with specimens from the {\textquoteleft}{\textquoteleft}Cell line and DNA bank from patients affected by genetic diseases{\textquoteright}{\textquoteright} Biobank, supported by TELETHON grants; and the Japan Health Sciences Foundation for providing us with control fibroblasts (TIG118-120) from Health Science Research Resources Bank. This work was supported by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology of Japan to Y.A.",
year = "2005",
month = oct,
doi = "10.1038/ng1641",
language = "English",
volume = "37",
pages = "1038--1040",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "10",
}