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Article

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

Molecular vision - 1 Jan 2011

Romero Pablo, Sanhueza Felipe, Lopez Pamela, Reyes Loreto, Herrera Luisa

Abstract excerpt

PURPOSE: To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members. METHODS: Five family members affected with NPS and two unaffected members underwent a complete ophthalmologic examination, including computerized visual...

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Source

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Identifiers

PMID: 21850167
PMCID: PMC3154131

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.PMID 21850167Read ↗

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