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10.1016/j.beem.2010.09.002 http://scihub22266oqcxt.onion/10.1016/j.beem.2010.09.002 C3058199!3058199!21396583     free     free     free       Best+Pract+Res+Clin+Endocrinol+Metab 2011 ; 25 (1): 161-79 Nephropedia Template TP {{tp|p=21396583|t=2011. Noonan syndrome and clinically related disorders |pdf=|usr=}}{{21396583}} gab.com Text Noonan syndrome and clinically related disorders JO: Best Pract Res Clin Endocrinol Metab http://www.kidney.de/pget.php?&tw=1&pmid=21396583 #FOAvip Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. Twit Text FOAVip Noonan syndrome and clinically related disorders ????Best Pract Res Clin Endocrinol Metab http://www.kidney.de/pget.php?&tw=1&pmid=21396583 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21396583 #FOAvip English Wikipedia <ref>{{Cite pmid|21396583}}</ref> Noonan syndrome and clinically related disorders #MMPMID21396583 Tartaglia M; Gelb BD; Zenker M Best Pract Res Clin Endocrinol Metab 2011[Feb]; 25 (1): 161-79 PMID21396583show ga Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. äNoonan syndrome and clinically related disorders (epmc).pdf DeepDyve Pubget Overpricing