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Article

[Ocular involvement in nail-patella syndrome (#161200)].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Apr 2002

Fröhlich S J, Kalpadakis P, Rudolph G, Boergen K P

Abstract excerpt

PURPOSE: The "nail-patella syndrome" (NPS) is an autosomal dominant hereditary systemic disease. The underlying defect of the LMX1B gene is localised on chromosome 9q34 and causes various typical clinical signs such as onychodysplasia, patella hypoplasia, renal involvement and open angle glaucoma...

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Identifiers

PMID: 12058504
DOI: 10.1007/s003470100553

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12058504-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

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[Ocular involvement in nail-patella syndrome (#161200)].PMID 12058504Read ↗

Nail patella syndrome: a review of the phenotype aided by developmental biology.Semantic proximity Read ↗

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

c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.Semantic proximity Read ↗

Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.Semantic proximity Read ↗

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

Nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

Nail-patella syndrome and its association with glaucoma: a review of eight families.Semantic proximity Read ↗

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].Semantic proximity Read ↗

Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.Semantic proximity Read ↗

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

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

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