Article

Mosaicism detection and impact in eye development anomalies

2022-09-13

Abstract excerpt

<title>Abstract</title> <p>Micro-anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the exploration of hundreds of genes by High-Throughput Sequencing (HTS), most of the patients remain without genetic diagnosis. One explanation could be the not yet demonstrated involvement of somatic mosaicism (undetected by conventional analysis pipe...

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Literature Corpus work: 8cabeaee-8583-5656-8b64-c1bbd7208e59
DOI: 10.21203/rs.3.rs-1992709/v1

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