LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.

@article{Isojima2014LMX1BMW,
  title={LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.},
  author={Tsuyoshi Isojima and Yutaka Harita and Masayuki Furuyama and Noriko Sugawara and Kiyonobu Ishizuka and Shigeru Horita and Yuko Kajiho and Kenichiro Miura and Takashi Igarashi and Motoshi Hattori and Sachiko Kitanaka},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2014},
  volume={29 1},
  pages={81-8}
}
BACKGROUND Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder caused by LMX1B mutation. In patients with the renal lesions typical of NPS without skeletal or nail findings, it is described as nail-patella-like renal disease (NPLRD). However, the pathogenesis of NPLRD is largely unknown. METHODS A 6-year-old girl with microscopic haematuria and mild proteinuria was diagnosed with NPLRD because of an aberrantly thickened glomerular basement membrane (GBM) and deposition of Type… CONTINUE READING
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