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

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.

Molecular vision - 1 Jan 2025

Verma Anshuman, Khan Arif O, Pochaboina Venkatesh, Senthil Sirisha

Abstract excerpt

Purpose: This study describes a distinct spectrum of latent transforming growth factor-β-binding protein 2 (LTBP2)-related ocular phenotypes in pediatric glaucoma with supporting genetic evidence and highlights our clinical experiences in its management. Methods: A total of 189 children with childhood glaucoma underwent whole-exome sequencing-based genetic testing. Of these, 24 children displayed LTBP2-related...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Glaucoma

Share to Infant

Share to Latent TGF-beta Binding Proteins

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 40384769
PMCID: PMC12085203

Genes

LTBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.PMID 40384769Read ↗

Exploring the Genetic Landscape of Childhood GlaucomaSemantic proximity Read ↗

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaSemantic proximity Read ↗

Childhood glaucoma: Implications for genetic counselling.Semantic proximity Read ↗

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.Semantic proximity Read ↗

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.Semantic proximity Read ↗

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Semantic proximity Read ↗

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.Semantic proximity Read ↗

Update on pediatric glaucoma.Semantic proximity Read ↗

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.Semantic proximity Read ↗

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic DisordersSemantic proximity Read ↗

Genetics of primary glaucoma.Semantic proximity Read ↗

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.Semantic proximity Read ↗

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