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A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen

14 Jun 2008

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18554571
DOI: 10.1016/j.ajo.2008.04.029

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A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk DrusenPMID 18554571Read ↗

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.Semantic proximity Read ↗

NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.Semantic proximity Read ↗

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.Semantic proximity Read ↗

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.Semantic proximity Read ↗

Nanophthalmos: A Review of the Clinical Spectrum and GeneticsSemantic proximity Read ↗

MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.Semantic proximity Read ↗

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Semantic proximity Read ↗

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.Semantic proximity Read ↗

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.Semantic proximity Read ↗

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.Semantic proximity Read ↗

Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.Semantic proximity Read ↗

Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.Semantic proximity Read ↗

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