Article
Pilocytic astrocytoma in a child with Noonan syndrome.
Pediatric blood & cancer - 1 Dec 2009
Schuettpelz Laura G, McDonald Sharon, Whitesell Kristina, Desruisseau David M, Grange Dorothy K, Gurnett Christina A, Wilson David B
Abstract excerpt
Noonan syndrome (NS; MIM 163950) is an autosomal dominant dysmorphic syndrome characterized by distinct facial features, cardiac anomalies, short stature, and motor delay. Activating mutations in PTPN11, encoding the protein tyrosine phosphatase SHP2, are associated with about 50% of cases. Mutations in other genes in the RAS/mitogen-activated protein kinase signaling pathway are responsible for many of the...
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