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10.5114/aoms.2017.64720 http://scihub22266oqcxt.onion/10.5114/aoms.2017.64720 C5206377!5206377!28144274     free     free     free       Arch+Med+Sci 2017 ; 13 (1): 215-22 Nephropedia Template TP {{tp|p=28144274|t=2017. Noonan syndrome ? a new survey |pdf=|usr=}}{{28144274}} gab.com Text Noonan syndrome a new survey JO: Arch Med Sci http://www.kidney.de/pget.php?&tw=1&pmid=28144274 #FOAvip Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. Twit Text FOAVip Noonan syndrome a new survey ????Arch Med Sci http://www.kidney.de/pget.php?&tw=1&pmid=28144274 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28144274 #FOAvip English Wikipedia <ref>{{Cite pmid|28144274}}</ref> Noonan syndrome ? a new survey #MMPMID28144274 Tafazoli A; Eshraghi P; Koleti ZK; Abbaszadegan M Arch Med Sci 2017[Feb]; 13 (1): 215-22 PMID28144274show ga Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. äNoonan syndrome ? a new survey (epmc).pdf DeepDyve Pubget Overpricing