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Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis

โœ Scribed by Saul, Robert A. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
61 KB
Volume
21
Category
Article
ISSN
0148-7299

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Neurofibromatosisโ€“Noonan syndrome: Molec
โœ Debora R. Bertola; Alexandre C. Pereira; Fรกbio Passetti; Paulo S.L. de Oliveira; ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 159 KB ๐Ÿ‘ 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