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Article

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

Molecular vision - 27 Apr 2007

Millá Elena, Hernan Imma, Gamundi Maria José, Martínez-Gimeno Maria, Carballo Miguel

Abstract excerpt

PURPOSE: To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members. METHODS: All individuals underwent a complete ophthalmologic examination, including optical coherence tomography (OCT) of the optic disc and peripapillary region and ultrasound pachymetry. Screening for mutations...

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Source

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Identifiers

PMID: 17515884
PMCID: PMC2669506

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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