Genome sequencing in congenital cataracts improves diagnostic yield
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DOI: 10.1002/humu.24240
Abstract: Congenital cataracts are one of the major causes of childhoodâonset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we… read more here.
Keywords: genome sequencing; diagnostic yield; congenital cataracts; sequencing congenital ... See more keywords