Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201497.pdf
Reference40 articles.
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3. Tidyman WE, Rauen KA : Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med 2008; 10: e37.
4. Baldassarre G, Mussa A, Dotta A et al: Prenatal features of Noonan syndrome: prevalence and prognostic value. Prenat Diagn 2011; 31: 949–954.
5. Digilio MC, Lepri F, Baban A et al: RASopathies: clinical diagnosis in the first year of life. Mol Syndromol 2011; 1: 282–289.
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