Article
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
Nature medicine - 1 Aug 2004
Araki Toshiyuki, Mohi M Golam, Ismat Fraz A, Bronson Roderick T, Williams Ifor R, Kutok Jeffery L, Yang Wentian, Pao Lily I, Gilliland D Gary, Epstein Jonathan A, Neel Benjamin G
Abstract excerpt
Noonan syndrome is a common human autosomal dominant birth defect, characterized by short stature, facial abnormalities, heart defects and possibly increased risk of leukemia. Mutations of Ptpn11 (also known as Shp2), which encodes the protein-tyrosine phosphatase Shp2, occur in approximately 50% of individuals with Noonan syndrome, but their molecular, cellular and developmental effects, and the relationship...
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