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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...
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| Publicado no: | Pediatr Nephrol |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| 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 |
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