Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Clinical genetics - 1 Jul 1999

Eccles M R, Schimmenti L A

Abstract excerpt

Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Coloboma
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Developmental

Share to Kidney Diseases

Share to Optic Nerve Diseases

Share to PAX2 Transcription Factor

Share to Syndrome

Source

Identifiers

PMID: 10466411
DOI: 10.1034/j.1399-0004.1999.560101.x

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.PMID 10466411Read ↗

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 ↗

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

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

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.Semantic proximity Read ↗

Renal coloboma syndrome.Semantic proximity Read ↗

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

PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.Semantic proximity Read ↗

PAX2 mutations in oligomeganephronia.Semantic proximity Read ↗

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.Semantic proximity Read ↗

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.