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

The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review.

Molecular vision - 1 Jan 2025

Liu Jianing, Han Mengmeng, Zhang Xiao, Li Miaomiao, Liu Shiguo, Jiang Nan

Abstract excerpt

Purpose: Retinitis pigmentosa (RP) is an inherited heterogeneous neurodegenerative retinal disease leading to blindness eventually. Currently, a large number of studies have explored its heterogeneity, but the genotype-phenotype correlation remains unclear. The present study aimed to explore genetic mutations and the correlation between genotype-phenotype in three RP families from the Chinese Han population....

Read the complete abstract on PubMed

Topics

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

Share to China
Share to East Asian People
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Genetic Association Studies

Share to Pedigree

Share to Peripherins

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 41867381
PMCID: PMC13002339

Genes

CERKL
RPGR
PRPH2

Variants

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

The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review.PMID 41867381Read ↗

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.Semantic proximity Read ↗

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).Semantic proximity Read ↗

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variantsSemantic proximity Read ↗

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.Semantic proximity Read ↗

Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision Diagnosis.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.Semantic proximity Read ↗

Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.Semantic proximity Read ↗

Clinical and molecular findings in children with retinitis pigmentosa.Semantic proximity Read ↗

Regional differences in genes and variants causing retinitis pigmentosa in Japan.Semantic proximity Read ↗

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaSemantic proximity Read ↗

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