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Article

Kidney disease in nail-patella syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2009

Lemley Kevin V

Abstract excerpt

Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although LMX1B is a developmental LIM-homeodomain transcription factor,...

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Source

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Identifiers

PMID: 18535845
DOI: 10.1007/s00467-008-0836-8
PMCID: PMC2770138

Genes

NPS
NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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