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Article

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

1 Apr 1995

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7795640
DOI: 10.1038/ng0495-358

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral refluxPMID 7795640Read ↗

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.Semantic proximity Read ↗

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.Semantic proximity Read ↗

Renal-coloboma syndrome: report of a novel PAX2 gene mutation.Semantic proximity Read ↗

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseSemantic proximity Read ↗

Mutation of PAX2 in two siblings with renal-coloboma syndrome.Semantic proximity Read ↗

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.Semantic proximity Read ↗

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.Semantic proximity Read ↗

A clinico-genetic study of renal coloboma syndrome in children.Semantic proximity Read ↗

New ocular phenotype associated with a mutation in the PAX2 gene.Semantic proximity Read ↗

PAX2 mutations in oligomeganephronia.Semantic proximity Read ↗

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.Semantic proximity Read ↗

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by aPAX2mutationSemantic proximity Read ↗

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