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A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.

Nephron - 1 Jan 2021

Morimoto Nobuhisa, Nagahama Kiyotaka, Mori Takayasu, Fujimaru Takuya, Tsuura Yukio, Terai Ayumi, Tanabe Madoka, Otani Megumi, Shioji Shingo, Hirasawa Suguru, Aki Shota, Aoyagi Makoto, Sohara Eisei, Uchida Shinichi, Tanaka Hiroyuki

Abstract excerpt

We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associated with a novel heterozygous variant in the LMX1B gene. A 43-year-old female patient with a previous diagnosis of NPS, referred to our hospital for persistent proteinuria, underwent a renal biopsy, which revealed minor glomerular abnormalities. She underwent a second renal biopsy at the age of...

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PMID: 34515165
DOI: 10.1159/000518423

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