Article
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Clinical endocrinology - 1 Sept 2008
Ferreira Lize V, Souza Silvia C A L, Montenegro Luciana R, Malaquias Alexsandra C, Arnhold Ivo J P, Mendonca Berenice B, Jorge Alexander A L
Abstract excerpt
BACKGROUND: Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS. OBJECTIVE: To evaluate the presence of mutations in PTPN11 in ISS children who...
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