Maha Mahmoud Ahmed Kobesiy <br/><br/>
Detection of mutations in PTPN11 gene in patients with noonan syndrome /  
 لدى مرضى متلازمة نونان PTPN11 تحديد طفرات جين  
Maha Mahmoud Ahmed Kobesiy ; Supervised Maged Mohammed A. Barakat , Mona Lotfi Essawi , Manal Fouad Ismail 
 - Cairo :   Maha Mahmoud Ahmed Kobesiy ,   2013 
 - 132 P. :   charts , facsimiles ;   25cm 
<br/><br/>Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry 
<br/><br/> Background : Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature and cardiac defects which can be caused by missense PTPN11 mutations . Protein tyrosine phosphatase non receptor 11 (PTPN11) encodes src homology 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction downstream to growth factors and cytokines 
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<br/><br/><label>Subjects--Index Terms: </label>Mutational analysis Noonan syndrome  Protein tyrosine phosphatase