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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 b...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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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 2 Sept 2026. Prepared record publication-18535845-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.Semantic proximity Read ↗

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.Semantic proximity Read ↗

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