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Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report
BACKGROUND: Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry dis...
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| 出版年: | BMC Nephrol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7424659/ https://ncbi.nlm.nih.gov/pubmed/32791958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-02012-3 |
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