Article

Variants in PAX6, PITX3 and HSF4 Causing Autosomal Dominant Congenital Cataract

2021-04-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.<bold>Methods: </bold>Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autos...

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Literature Corpus work: 50ba8f62-6067-5098-85a5-7efe2fa903b6
DOI: 10.21203/rs.3.rs-367664/v1

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