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

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.

Medicine - 5 Mar 2021

Tao Zhiyan, Bu Shaochong, Lu Fang

Abstract excerpt

RATIONALE: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of Adams-Oliver syndrome (AOS) genes in FEVR patients have not been reported before. PATIENT CONCERNS: Two patients with FEVR presented with microcephaly. One...

Read the complete abstract on PubMed

Topics

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

Share to Ectodermal Dysplasia
Share to Eye Diseases, Hereditary
Share to Familial Exudative Vitreoretinopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTPase-Activating Proteins

Share to Guanine Nucleotide Exchange Factors

Share to Limb Deformities, Congenital

Share to Microcephaly

Share to Retinal Detachment

Source

Open in PubMed Open full text

Identifiers

PMID: 33655927
DOI: 10.1097/MD.0000000000024633
PMCID: PMC7939203

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

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.PMID 33655927Read ↗

Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.Semantic proximity Read ↗

Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.Semantic proximity Read ↗

Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.Semantic proximity Read ↗

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

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.Semantic proximity Read ↗

Familial Exudative VitreoretinopathySemantic proximity Read ↗

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

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

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