Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report
Abstract 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). F...
Main Authors: | Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-08-01
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Series: | BMC Nephrology |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12882-020-02012-3 |
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