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

Abstract excerpt

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...

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