Article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Human mutation - 1 Apr 2017
Pannone Luca, Bocchinfuso Gianfranco, Flex Elisabetta, Rossi Cesare, Baldassarre Giuseppina, Lissewski Christina, Pantaleoni Francesca, Consoli Federica, Lepri Francesca, Magliozzi Monia, Anselmi Massimiliano, Delle Vigne Silvia, Sorge Giovanni, Karaer Kadri, Cuturilo Goran, Sartorio Alessandro, Tinschert Sigrid, Accadia Maria, Digilio Maria C, Zampino Giuseppe, De Luca Alessandro, Cavé Hélène, Zenker Martin, Gelb Bruce D, Dallapiccola Bruno, Stella Lorenzo, Ferrero Giovanni B, Martinelli Simone, Tartaglia Marco
Abstract excerpt
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu261 , Leu262 , and Arg265 in 16 unrelated individuals with clinical diagnosis of NS or with...
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