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Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

1 Jan 2005

Abstract excerpt

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 of RAS-mitogen activated protein kinase signaling. Neurofibromatosis type 1 (NF1) is another autosomal dominant...

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PMID: 15948193
DOI: 10.1002/ajmg.a.30813

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