Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Ca...

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Bibliographic Details
Main Authors: Mariya R. Ahmed, Saumil Sethna, Laura A. Krueger, Michael B. Yang, Robert B. Hufnagel
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
<i>FOXC1</i>
in vitro studies
novel variant
ophthalmic genetics
intrafamilial variability
anterior segment dysgenesis
Online Access:https://www.mdpi.com/2073-4425/13/3/411

Internet

https://www.mdpi.com/2073-4425/13/3/411

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