Article

Variable Anterior Segment Dysgenesis And Cardiac Anomalies Caused By A Novel Truncating Variant Of FOXC1

2022-01-31

Abstract excerpt

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 Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of FOXC1. The family his...

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Literature Corpus work: 09b446d6-d1bb-56be-92c8-5d63cee53b11
DOI: 10.20944/preprints202201.0466.v1

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