Article
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
American journal of human genetics - 1 Jun 2002
Tartaglia Marco, Kalidas Kamini, Shaw Adam, Song Xiaoling, Musat Dan L, van der Burgt Ineke, Brunner Han G, Bertola Débora R, Crosby Andrew, Ion Andra, Kucherlapati Raju S, Jeffery Steve, Patton Michael A, Gelb Bruce D
Abstract excerpt
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the gene encoding the non-receptor-type protein tyrosine phosphatase SHP-2 (src homology region 2-domain phosphatase-2), cause NS, accounting for approximately 50% of cases of this genetically heterogeneous disorder in a...
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