NeurofibromatosisโNoonan syndrome: Molec
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Debora R. Bertola; Alexandre C. Pereira; Fรกbio Passetti; Paulo S.L. de Oliveira;
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Article
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2005
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John Wiley and Sons
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English
โ 159 KB
๐ 1 views
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial anomalies, webbed neck, sternal deformity, heart defects, and, in males, cryptorchidism. PTPN11 encodes SHP2, an important component of several signal transduction pathways that acts as a positive regulator