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

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.

International journal of molecular sciences - 11 Jun 2024

Bjeloš Mirjana, Ćurić Ana, Bušić Mladen, Rak Benedict, Kuzmanović Elabjer Biljana

Abstract excerpt

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia....

Read the complete abstract on PubMed

Topics

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

Share to Albinism, Oculocutaneous
Share to Calpain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Monophenol Monooxygenase

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38928147
DOI: 10.3390/ijms25126442
PMCID: PMC11204092

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

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.PMID 38928147Read ↗

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.Semantic proximity Read ↗

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.Semantic proximity Read ↗

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.Semantic proximity Read ↗

The co-occurrence of genetic variants in the<i>TYR</i>and<i>OCA2</i>genes confers susceptibility to albinismSemantic proximity Read ↗

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.Semantic proximity Read ↗

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in <i>TYR</i>Semantic proximity Read ↗

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.Semantic proximity Read ↗

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].Semantic proximity Read ↗

[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy].Semantic proximity Read ↗

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.Semantic proximity Read ↗

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Semantic proximity Read ↗

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