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Updated: Jul 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex

Julie Plaisancié1,2,3, Bertrand Chesneau1,2,3, Lucas Fares-Taie4

  • 1Laboratoire de Référence des Anomalies Malformatives de l'Œil, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, 31300 Toulouse, France.

International Journal of Molecular Sciences
|March 13, 2024
PubMed
Summary

Whole-genome sequencing identified a novel inversion disrupting ocular development. This finding highlights the importance of examining structural variants in diagnosing rare ocular malformations.

Keywords:
Axenfeld–RiegerFOXC1eye malformationinversionmicrophthalmiastructural variant

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