Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy?-Reference-Cited by-同舟云学术

Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy?

Published:2013-04-02 Issue:2 Volume:85 Page:138-146
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Nowaczyk M.J.M.¹,Thompson B.A.²,Zeesman S.,Moog U.³,Sanchez-Lara P.A.⁴,Magoulas P.L.⁵,Falk R.E.⁶,Hoover-Fong J.E.⁷,Batista D.A.S.⁷⁸,Amudhavalli S.M.⁷,White S.M.⁹¹⁰,Graham G.E.¹¹,Rauen K.A.²

Affiliation:

1. Department of Pathology and Molecular Medicine; McMaster University; Hamilton Canada

2. Department of Pediatrics; University of California; San Francisco CA USA

3. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

4. Children's Hospital Los Angeles, Departments of Pathology and Pediatrics, Keck School of Medicine; Center for Craniofacial Molecular Biology (CCMB), Herman Ostrow School of Dentistry; University of Southern California; Los Angeles CA USA

5. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

6. Department of Pathology and Laboratory Medicine, Medical Genetics Institute; Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California; Los Angeles CA USA

7. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University; Baltimore MD USA

8. Department of Pathology; Johns Hopkins University; Baltimore MD USA

9. Murdoch Children's Research Institute; Royal Children's Hospital; Melbourne Australia

10. Department of Paediatrics; University of Melbourne; Melbourne Australia

11. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation;Tidyman;Curr Opin Genet Dev,2009

2. Ras proteins: different signals from different locations;Hancock;Nat Rev Mol Cell Biol,2003

3. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay;Upadhyaya;Hum Genet,1998

4. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome;Shchelochkov;Am J Med Genet,2008

5. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome;Graham;Am J Med Genet,2009

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