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Article

Nail patella syndrome: a review of the phenotype aided by developmental biology.

Journal of medical genetics - 1 Mar 2003

Sweeney E, Fryer A, Mountford R, Green A, McIntosh I

Abstract excerpt

Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes, and iliac horns on x ray. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. There is marked inter- and intrafamilial variability. The results of a...

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Identifiers

PMID: 12624132
DOI: 10.1136/jmg.40.3.153
PMCID: PMC1735400

Genes

NPS

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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