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

Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy

5 Jun 2025

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Retinal and Optic Conditions
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40482806
DOI: 10.1016/j.preteyeres.2025.101377

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophyPMID 40482806Read ↗

[Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy].Semantic proximity Read ↗

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.Semantic proximity Read ↗

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.Semantic proximity Read ↗

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Finding Homes for Orphan Cytochrome P450s: CYP4V2 and CYP4F22 in Disease StatesSemantic proximity Read ↗

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Semantic proximity Read ↗

PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.Semantic proximity Read ↗

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.Semantic proximity Read ↗

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