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

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Genes - 9 Dec 2024

Esteve-Garcia Anna, Sau Cristina, Padró-Miquel Ariadna, Català-Mora Jaume, Aguilera Cinthia, Cobos Estefania

Abstract excerpt

Background/Objectives: Biallelic pathogenic variants in the CEP290 gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with CEP290 variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Exome Sequencing

Share to Frameshift Mutation

Share to Mutation, Missense

Share to Retinal Dystrophies

Share to Siblings

Source

Identifiers

PMID: 39766851
DOI: 10.3390/genes15121584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.PMID 39766851Read ↗

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild PhenotypeSemantic proximity Read ↗

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.Semantic proximity Read ↗

An early onset cone dystrophy due to CEP290 mutation: a case report.Semantic proximity Read ↗

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.Semantic proximity Read ↗

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.Semantic proximity Read ↗

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.Semantic proximity Read ↗

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.Semantic proximity Read ↗

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.Semantic proximity Read ↗

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.Semantic proximity Read ↗

Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.Semantic proximity Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Semantic proximity Read ↗

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