Associated Papers
LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.
Verma A et al.
Molecular Vision, 2025
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
Liu L et al.
Molecular Vision, 2023
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review.
Xu M et al.
Bmc Medical Genomics, 2021
Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.
Alías L et al.
Bmc Medical Genetics, 2018
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.
Mohanty K et al.
Molecular Vision, 2013
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
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Kumar A et al.
Human Genetics, 2010
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.
Sharafieh R et al.
Ophthalmic Genetics, 0
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