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Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

18 Nov 2018

Abstract excerpt

Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes have been demonstrated to cause the disorder and up to 40% of cases arise from single-gene mutations. Hence, next generation sequencing (NGS) of deoxyribonucleic acid is a suitable approach for CC molecular diagnosis. In this study, we used commercially...

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PMID: 30450742
DOI: 10.1002/ajmg.a.40524

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