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10.1093/ckj/sft058 http://scihub22266oqcxt.onion/10.1093/ckj/sft058 C4898336!4898336!27293569     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Clin+Kidney+J 2013 ; 6 (4): 410-3 Nephropedia Template TP {{tp|p=27293569|t=2013. A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation |pdf=|usr=}}{{27293569}} gab.com Text A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation JO: Clin Kidney J http://www.kidney.de/pget.php?&tw=1&pmid=27293569 #FOAvip Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease. Twit Text FOAVip A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation ????Clin Kidney J http://www.kidney.de/pget.php?&tw=1&pmid=27293569 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27293569 #FOAvip English Wikipedia <ref>{{Cite pmid|27293569}}</ref> A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation #MMPMID27293569 Adam J; Browning AC; Vaideanu D; Heidet L; Goodship JA; Sayer JA Clin Kidney J 2013[Aug]; 6 (4): 410-3 PMID27293569show ga Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease. äA wide spectrum of phenotypes in a family with renal coloboma syndrome(epmc).pdf DeepDyve Pubget Overpricing