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10.1038/ejhg.2015.175 http://scihub22266oqcxt.onion/10.1038/ejhg.2015.175 C4930084!4930084!26242988     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2016 ; 24 (5): 690-6 Nephropedia Template TP {{tp|p=26242988|t=2016. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome |pdf=|usr=}}{{26242988}} gab.com Text The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26242988 #FOAvip The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS?MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans. Twit Text FOAVip The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26242988 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26242988 #FOAvip English Wikipedia <ref>{{Cite pmid|26242988}}</ref> The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome #MMPMID26242988 Joyce S; Gordon K; Brice G; Ostergaard P; Nagaraja R; Short J; Moore S; Mortimer P; Mansour S Eur J Hum Genet 2016[May]; 24 (5): 690-6 PMID26242988show ga The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS?MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans. äThe lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome (epmc).pdf DeepDyve Pubget Overpricing