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

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.

Ophthalmic genetics - 1 Jan 2000

Gupta Mrinali P, Talcott Katherine E, Kim David Y, Agarwal Suneet, Mukai Shizuo

Abstract excerpt

BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Metabolic
Share to Diseases in Twins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Gestational Age

Share to Photography

Share to Retinal Diseases

Share to Retinal Vessels

Share to Telomere-Binding Proteins

Source

Identifiers

PMID: 28095086
DOI: 10.1080/13816810.2016.1275019

Genes

TINF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.PMID 28095086Read ↗

Revesz syndrome masquerading as traumatic retinal detachment.Semantic proximity Read ↗

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular SyndromeSemantic proximity Read ↗

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.Semantic proximity Read ↗

Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.Semantic proximity Read ↗

A novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review.Semantic proximity Read ↗

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).Semantic proximity Read ↗

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.Semantic proximity Read ↗

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.Semantic proximity Read ↗

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.Semantic proximity Read ↗

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?Semantic proximity Read ↗

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.Semantic proximity Read ↗

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.Semantic proximity Read ↗

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