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Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India.

08:00 EDT 10th August 2017 | BioPortfolio

Summary of "Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India."

Familial clustering of common forms of primary strabismus like esotropia (ET) and exotropia (XT) is observed in a proportion of the strabismus cohort. The genetic components of this remain unidentified. Linkage studies have demonstrated susceptibility locus for primary strabismus at the STBMS1 locus on 7p22.1 as well as other loci on 4q28.3 and 7q31.2. Recently next generation sequencing (NGS) technology has emerged as a powerful tool in discovery genomics and a large number of novel disease-causing variants are being reported. In this study, we recruited informative families for subsequent genetic analysis for disease-causing variant identification.

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This article was published in the following journal.

Name: Strabismus
ISSN: 1744-5132
Pages: 1-14

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