Noonan Syndrome and PTPN11 Mutations
Marco Tartaglia
Search for more papers by this authorBruce D. Gelb
Search for more papers by this authorMarco Tartaglia
Search for more papers by this authorBruce D. Gelb
Search for more papers by this authorD. Woodrow Benson MD, PhD
Professor of Pediatrics, Director, Cardiovascular Genetics, Division of Cardiology, Cincinnati Children's Hospital Medical Center
Search for more papers by this authorDeepak Srivastava MD
Pogue Distinguished Chair in Research on Cardiac Birth Defects, Joel B. Steinberg, M.D. Chair in Pediatrics Professor, Departments of Pediatrics and Molecular Biology, University of Texas, Southwestern Medical Center at Dallas
Search for more papers by this authorMakoto Nakazawa MD
Professor and Head, Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical University
Search for more papers by this authorSummary
This chapter contains sections titled:
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Genetic mapping and disease gene discovery
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PTPN11 and IT protein product, SHP-2
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Molecular pathology of Noonan syndrome
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Genotype/phenotype correlation
References
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