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

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2012

Iatropoulos Paraskevas, Daina Erica, Mele Caterina, Maranta Ramona, Remuzzi Giuseppe, Noris Marina

Abstract excerpt

BACKGROUND: Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development. CASE-DIAGNOSIS/TREATMENT: The case study involves two monozygotic twin sisters with RCS showing highly discordant phenotypes. Twin 1 was antenatally diagnosed with...

Read the complete abstract on PubMed

Topics

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

Share to Coloboma
Share to Cysteine
Share to Diseases in Twins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Environment

Share to PAX2 Transcription Factor

Share to Renal Insufficiency

Share to Twins, Monozygotic

Share to Vesico-Ureteral Reflux

Source

Identifiers

PMID: 22660956
DOI: 10.1007/s00467-012-2205-x

Genes

PAX2

Variants

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

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.PMID 22660956Read ↗

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

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

Resolving Severe Oligohydramnios as an Early Prenatal Presentation of Renal Coloboma Syndrome - a Report of Two GenerationsSemantic proximity Read ↗

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

Renal coloboma syndrome.Semantic proximity Read ↗

PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability.Semantic 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 ↗

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.Semantic proximity Read ↗

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

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