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

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

Ophthalmic surgery, lasers & imaging retina - 1 May 2023

Wakabayashi Taku, Patel Samir N, Starr Matthew R, Yonekawa Yoshihiro

Abstract excerpt

We report a case of a patient with 18p deletion syndrome and concurrent FZD4 (frizzled-4) mutation. A 6-month-old boy with known 18p deletion syndrome presented with abnormal eye movements in both eyes and an inability to track objects. The patient had a history of laryngomalacia, hypotonia, and developmental delay. Examination showed bilateral total exudative and traction retinal detachment with anomalous...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 18

Share to Frizzled Receptors

Share to Homeodomain Proteins

Share to Repressor Proteins

Share to Retinal Detachment

Share to Retinal Diseases

Source

Identifiers

PMID: 37022334
DOI: 10.3928/23258160-20230307-02

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.PMID 37022334Read ↗

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Semantic proximity Read ↗

Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.Semantic proximity Read ↗

Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

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

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.Semantic proximity Read ↗

Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.Semantic proximity Read ↗

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.Semantic proximity Read ↗

Genetic analysis of a large heterogeneous patient population with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.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 ↗

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