Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders
Abstract
The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and dominant families, including six...
Paper Details
Title
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders
Published Date
May 27, 2021
Journal
Volume
30
Issue
17
Pages
1591 - 1606
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