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Article

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

Nederlands tijdschrift voor geneeskunde - 11 Jan 2003

Bongers E M H F, Knoers N V A M

Abstract excerpt

Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder characterised by nail dysplasia, patellar apoplasia/hypoplasia, iliac horns, elbow dysplasia, and frequently primary open angle glaucoma and progressive nephropathy. The gene underlying NPS, LMX1B on chromosome 9q34.1, is a transcription factor involved in the normal dorsoventral patterning of the limb and normal development of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12602071

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[From gene to disease; the nail-patella syndrome and the LMX1B gene].PMID 12602071Read ↗

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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 ↗

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Semantic proximity Read ↗

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Semantic proximity Read ↗

Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella SyndromeSemantic proximity Read ↗

Clinico-genetic study of nail-patella syndrome.Semantic proximity Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

[The nail-patella syndrome: rare genetically determined cause of proteinuria].Semantic proximity Read ↗

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.Semantic proximity Read ↗

De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.Semantic proximity Read ↗

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