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

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International journal of molecular sciences - 6 Mar 2023

Zhu Di, Wang Junwen, Wang Yingwei, Jiang Yi, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Corneal dystrophies (CDs) represent a group of inherited diseases characterized by the progressive deposit of abnormal materials in the cornea. This study aimed to describe the variant landscape of 15 genes responsible for CDs based on a cohort of Chinese families and a comparative analysis of literature reports. Families with CDs were recruited from our eye clinic. Their genomic DNA was analyzed using exome...

Read the complete abstract on PubMed

Topics

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

Share to Anion Transport Proteins
Share to Antiporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to Cornea

Share to Corneal Dystrophies, Hereditary

Share to DNA Mutational Analysis

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 36902444
DOI: 10.3390/ijms24055012
PMCID: PMC10003302

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

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.PMID 36902444Read ↗

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large CohortSemantic proximity Read ↗

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.Semantic proximity Read ↗

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.Semantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus.Semantic proximity Read ↗

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case reportSemantic proximity Read ↗

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.Semantic proximity Read ↗

Mutational spectrum of Korean patients with corneal dystrophy.Semantic proximity Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.Semantic proximity Read ↗

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.Semantic proximity Read ↗

Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.Semantic proximity Read ↗

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