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Article

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

BMC nephrology - 23 Mar 2017

Nakata Tomohiro, Ishida Ryo, Mihara Yuu, Fujii Atsuko, Inoue Yoshimoto, Kusaba Tetsuro, Isojima Tsuyoshi, Harita Yutaka, Kanda Chiaki, Kitanaka Sachiko, Tamagaki Keiichi

Abstract excerpt

BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28335748
DOI: 10.1186/s12882-017-0516-7
PMCID: PMC5363042

Genes

NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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