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Article

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

Journal of medical genetics - 1 Jan 2002

Becker K, Beales P L, Calver D M, Matthijs G, Mohammed S N

Abstract excerpt

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11826030
DOI: 10.1136/jmg.39.1.68
PMCID: PMC1734967

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.PMID 11826030Read ↗

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.Semantic proximity Read ↗

On the expansion of the phenotype of the acro-renal-ocular syndrome.Semantic proximity Read ↗

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

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)Semantic proximity Read ↗

PAX2 in human kidney malformations and diseaseSemantic proximity Read ↗

Pax2 in the development of renal and urinary tract diseases.Semantic proximity Read ↗

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene familySemantic proximity Read ↗

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.Semantic proximity Read ↗

Clinical and genetic variability of PAX2-related disorder in the Japanese population.Semantic proximity Read ↗

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.Semantic proximity Read ↗

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomaliesSemantic proximity Read ↗

Hearing loss and renal syndromes.Semantic proximity Read ↗

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