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Article

Mutation of PAX2 in two siblings with renal-coloboma syndrome.

Human molecular genetics - 1 Nov 1995

Sanyanusin P, McNoe L A, Sullivan M J, Weaver R G, Eccles M R

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8589702
DOI: 10.1093/hmg/4.11.2183

Genes

PAX2

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of PAX2 in two siblings with renal-coloboma syndrome.PMID 8589702Read ↗

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

PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.Semantic proximity Read ↗

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

[Infrequent mutation in renal-coloboma syndrome: case report and review].Semantic proximity Read ↗

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

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

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

Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings.Semantic proximity Read ↗

PAX2 Gene Mutation in a Family with Isolated Renal HypoplasiaSemantic proximity Read ↗

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.Semantic proximity Read ↗

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

PAX2 in human kidney malformations and diseaseSemantic proximity Read ↗

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