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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17. Pediatr Nephrol. 2019. PMID: 31001663 Free PMC article.
BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. ...All three cases were detected in individuals from families with mo …
BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic …
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M. Porteous S, et al. Hum Mol Genet. 2000 Jan 1;9(1):1-11. doi: 10.1093/hmg/9.1.1. Hum Mol Genet. 2000. PMID: 10587573
PAX2 mutations cause renal-coloboma syndrome (RCS), a rare multi-system developmental abnormality involving optic nerve colobomas and renal abnormalities. ...Heterozygous 1Neu mice showed increased apoptotic cell death during fetal kidney development, but the …
PAX2 mutations cause renal-coloboma syndrome (RCS), a rare multi-system developmental abnormality involving optic nerve …
Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report.
Kobayashi Y, Hayashi T, Ishii T, Uemura H. Kobayashi Y, et al. Exp Clin Transplant. 2014 Apr;12(2):162-4. doi: 10.6002/ect.2013.0005. Epub 2013 Jul 30. Exp Clin Transplant. 2014. PMID: 23902562 Free article.
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. ...We treated a 22-year-old man who had end-stage renal disease from renal coloboma syndrome. We performed an ABO-incompatible …
Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. ...We t …
Papillorenal syndrome after Beta-interferon treatment in pregnancy.
Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V. Gucev ZS, et al. Ren Fail. 2009;31(7):602-5. doi: 10.1080/08860220902968862. Ren Fail. 2009. PMID: 19839859
Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye defects, abnormal vascular pattern of the optic disk, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and somet …
Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomato …