Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
dc.contributor.author | Niihori, T. | |
dc.contributor.author | Aoki, Y. | |
dc.contributor.author | Narumi, Y. | |
dc.contributor.author | Neri, G. | |
dc.contributor.author | Cave, H. | |
dc.contributor.author | Verloes, A. | |
dc.contributor.author | Okamoto, N. | |
dc.contributor.author | Hennekam, RCM | |
dc.contributor.author | Gillessen-Kaesbach, G. | |
dc.contributor.author | Wieczorek, D. | |
dc.contributor.author | Kavamura, M. I. | |
dc.contributor.author | Kurosawa, K. | |
dc.contributor.author | Ohashi, H. | |
dc.contributor.author | Wilson, L. | |
dc.contributor.author | Heron, D. | |
dc.contributor.author | Bonneau, D. | |
dc.contributor.author | Corona, G. | |
dc.contributor.author | Kaname, T. | |
dc.contributor.author | Naritomi, K. | |
dc.contributor.author | Baumann, C. | |
dc.contributor.author | Matsumoto, N. | |
dc.contributor.author | Kato, K. | |
dc.contributor.author | Kure, S. | |
dc.contributor.author | Matsubara, Y. | |
dc.contributor.institution | Tohoku Univ | |
dc.contributor.institution | Catholic Univ | |
dc.contributor.institution | Hop Robert Debre | |
dc.contributor.institution | Osaka Med Ctr | |
dc.contributor.institution | Res Inst Maternal & Child Hlth | |
dc.contributor.institution | Inst Child Hlth | |
dc.contributor.institution | Acad Med Ctr | |
dc.contributor.institution | Univ Essen Gesamthsch | |
dc.contributor.institution | Universidade Federal de São Paulo (UNIFESP) | |
dc.contributor.institution | Kanagawa Childrens Med Ctr | |
dc.contributor.institution | Saitama Childrens Med Ctr | |
dc.contributor.institution | Great Ormond St Hosp Sick Children | |
dc.contributor.institution | Pitie Salpetriere Univ Hosp | |
dc.contributor.institution | Univ Hosp | |
dc.contributor.institution | Azienda Osped Univ G Martino | |
dc.contributor.institution | Univ Ryukyus | |
dc.contributor.institution | Yokohama City Univ | |
dc.date.accessioned | 2016-01-24T12:41:02Z | |
dc.date.available | 2016-01-24T12:41:02Z | |
dc.date.issued | 2006-03-01 | |
dc.description.abstract | Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. in 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders. | en |
dc.description.affiliation | Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan | |
dc.description.affiliation | Catholic Univ, Ist Genet Med, Rome, Italy | |
dc.description.affiliation | Hop Robert Debre, APHP, Dept Genet, Paris, France | |
dc.description.affiliation | Osaka Med Ctr, Dept Planning & Res, Osaka, Japan | |
dc.description.affiliation | Res Inst Maternal & Child Hlth, Osaka, Japan | |
dc.description.affiliation | Inst Child Hlth, Clin & Mol Genet Unit, London, England | |
dc.description.affiliation | Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands | |
dc.description.affiliation | Univ Essen Gesamthsch, Inst Human Genet, Essen, Germany | |
dc.description.affiliation | UNIFESP, Ctr Med Genet, São Paulo, Brazil | |
dc.description.affiliation | Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan | |
dc.description.affiliation | Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan | |
dc.description.affiliation | Great Ormond St Hosp Sick Children, London, England | |
dc.description.affiliation | Pitie Salpetriere Univ Hosp, Dept Genet, Paris, France | |
dc.description.affiliation | Univ Hosp, Dept Genet, Angers, France | |
dc.description.affiliation | Azienda Osped Univ G Martino, Dipartimento Sci Pediat Med & Chirurg, Unita Operat Complessa Patol Neonatale & Terapia, Messina, Italy | |
dc.description.affiliation | Univ Ryukyus, Sch Med, Dept Med Genet, Okinawa, Japan | |
dc.description.affiliation | Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan | |
dc.description.affiliation | Tohoku Univ, Comprehens Res & Educ Ctr Planning Drug Dev & Cli, Cent COE Program 21, Sendai, Miyagi, Japan | |
dc.description.affiliationUnifesp | UNIFESP, Ctr Med Genet, São Paulo, Brazil | |
dc.description.source | Web of Science | |
dc.format.extent | 294-296 | |
dc.identifier | http://dx.doi.org/10.1038/ng1749 | |
dc.identifier.citation | Nature Genetics. New York: Nature Publishing Group, v. 38, n. 3, p. 294-296, 2006. | |
dc.identifier.doi | 10.1038/ng1749 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | http://repositorio.unifesp.br/handle/11600/28781 | |
dc.identifier.wos | WOS:000235589600008 | |
dc.language.iso | eng | |
dc.publisher | Nature Publishing Group | |
dc.relation.ispartof | Nature Genetics | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.title | Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome | en |
dc.type | info:eu-repo/semantics/article |