Associated Papers
Characterization of LTBP2 mutation causing mitral valve prolapse.
Shpitzen S et al.
European Heart Journal Open, 2025
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
Bozkurt B et al.
Ophthalmic Genetics, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome.
Lin MR et al.
Journal of Personalized Medicine, 2022
Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.
Jamjoom H et al.
European Journal of Ophthalmology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.
Font-Porterias N et al.
Frontiers in Genetics, 2021
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
Rauf B et al.
Molecular Vision, 2020
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2019
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man C et al.
European Journal of Human Genetics : Ejhg, 2018
Primary congenital and developmental glaucomas.
Lewis CJ et al.
Human Molecular Genetics, 2017
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.
Chen X et al.
Molecular Vision, 2016
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
Micheal S et al.
Plos One, 2016
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.
Mohanty K et al.
Molecular Vision, 2013
Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.
Jelodari-Mamaghani S et al.
Molecular Vision, 2013
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Azmanov DN et al.
European Journal of Human Genetics : Ejhg, 2011
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.
Khan AO et al.
Molecular Vision, 2011
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
Abu-Amero KK et al.
Molecular Vision, 2011
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
Désir J et al.
European Journal of Human Genetics : Ejhg, 2010
Null mutations in LTBP2 cause primary congenital glaucoma.
Ali M et al.
American Journal of Human Genetics, 2009
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.
Sharafieh R et al.
Ophthalmic Genetics, 0
A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.
Safari I et al.
Journal of Ophthalmic & Vision Research, 0