Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome-Reference-Cited by-同舟云学术

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Published:2008-10-15 Issue:4 Volume:17 Page:420-425
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Neumann Thomas E,Allanson Judith,Kavamura Ines,Kerr Bronwyn,Neri Giovanni,Noonan Jacqueline,Cordeddu Viviana,Gibson Kate,Tzschach Andreas,Krüger Gabriele,Hoeltzenbein Maria,Goecke Timm O,Kehl Hans Gerd,Albrecht Beate,Luczak Klaudiusz,Sasiadek Maria M,Musante Luciana,Laurie Rohan,Peters Hartmut,Tartaglia Marco,Zenker Martin,Kalscheuer Vera

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008188.pdf

Reference36 articles.

1. Noonan JA : Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116: 373–380.

2. Allanson JE : Noonan syndrome. J Med Genet 1987; 24: 9–13.

3. Tartaglia M, Mehler EL, Goldberg R et al: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465–468.

4. Roberts AE, Araki T, Swanson KD et al: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007; 39: 70–74.

5. Tartaglia M, Pennacchio LA, Zhao C et al: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007; 39: 75–79.

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