A carregar...

Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children

BACKGROUND: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM# # 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Recently a causative role for PAX2 was reported in adult-onset nephrotic syndrome secondary to focal segmental...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Pediatr Nephrol
Main Authors: Vivante, Asaf, Chacham, Orna, Shril, Shirlee, Schreiber, Ruth, Soliman, Neveen A., Koneth, Irene, Schiffer, Mario, Anikster, Yair, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660980/
https://ncbi.nlm.nih.gov/pubmed/31001663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-019-04256-0
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!