PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity.

Authors :: Tartaglia, Marco
Kalidas, Kamini
Shaw, Adam
Xiaoling Song
Musat, Dan L.
van der Burgt, Ineke
Brunner, Han G.
Bertola, D é bora R.
Crosby, Andrew
Ion, Andra
Kucherlapati, Raju S.
Jeffrey, Steve
Patton, Michael A.
Gelb, Bruce D.
Source :: American Journal of Human Genetics. Jun2002, Vol. 70 Issue 6, p1555. 9p.
Publication Year :: 2002
Abstract: Presents a study of PTPN11 mutations in Noonan syndrome (NS). Common forms of cardiac disease in NS; Correlation between genotype and the cardiac phenotypes, pulmonic stenosis and hypertrophic cardiomyopathy; Methodology and results.

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