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10.1159/000445679 http://scihub22266oqcxt.onion/10.1159/000445679 C4870939!4870939!27226968     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Case+Rep+Nephrol+Dial 2016 ; 6 (1): 61-9 Nephropedia Template TP {{tp|p=27226968|t=2016. Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2 |pdf=|usr=}}{{27226968}} gab.com Text Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2 JO: Case Rep Nephrol Dial http://www.kidney.de/pget.php?&tw=1&pmid=27226968 #FOAvip A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed funduscopic examination ? including the optic disc ? might be useful for the diagnosis of renal anomalies associated with PAX2 mutation. Twit Text FOAVip Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2 ????Case Rep Nephrol Dial http://www.kidney.de/pget.php?&tw=1&pmid=27226968 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27226968 #FOAvip English Wikipedia <ref>{{Cite pmid|27226968}}</ref> Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2 #MMPMID27226968 Iwafuchi Y; Morioka T; Morita T; Yanagihara T; Oyama Y; Morisada N; Iijima K; Narita I Case Rep Nephrol Dial 2016[Jan]; 6 (1): 61-9 PMID27226968show ga A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed funduscopic examination ? including the optic disc ? might be useful for the diagnosis of renal anomalies associated with PAX2 mutation. äDiverse Renal Phenotypes Observed in a Single Family with a Genetic Mu(epmc).pdf DeepDyve Pubget Overpricing