Article

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

2020-11-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms rev...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0d0c1ff8-bec8-5b59-89dd-625a1a617497
DOI: 10.21203/rs.3.rs-24728/v5

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case reportDOI 10.21203/rs.3.rs-24728/v5Read

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

Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance PatternsSemantic proximity Read

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.Semantic proximity Read

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic 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

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.Semantic proximity Read

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.Semantic proximity Read

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.Semantic proximity Read

Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.Semantic proximity Read

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.Semantic proximity Read

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.Semantic proximity Read

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.Semantic proximity Read