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

✍ Scribed by Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L. Musat; Ineke van der Burgt; Han G. Brunner; Débora R. Bertola; Andrew Crosby; Andra Ion; Raju S. Kucherlapati; Steve Jeffery; Michael A. Patton; Bruce D. Gelb


Book ID
117853924
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
227 KB
Volume
70
Category
Article
ISSN
0002-9297

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Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others