Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome-Reference-Cited by-同舟云学术

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Published:2008-07-24 Issue:9 Volume:53 Page:834-841
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Narumi Yoko,Aoki Yoko,Niihori Tetsuya,Sakurai Masahiro,Cavé Hélène,Verloes Alain,Nishio Kimio,Ohashi Hirofumi,Kurosawa Kenji,Okamoto Nobuhiko,Kawame Hiroshi,Mizuno Seiji,Kondoh Tatsuro,Addor Marie-Claude,Coeslier-Dieux Anne,Vincent-Delorme Catherine,Tabayashi Koichi,Aoki Masashi,Kobayashi Tomoko,Guliyeva Afag,Kure Shigeo,Matsubara Yoichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2008104.pdf

Reference27 articles.

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2. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD (1985) Noonan syndrome: the changing phenotype. Am J Med Genet 21:507–514

3. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038–1040

4. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y (2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat [Epub ahead of print]

5. Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE (2004) Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A 130:378–383

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