Articles with "syndromic congenital" as a keyword



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Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

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Published in 2021 at "Genes"

DOI: 10.3390/genes12040580

Abstract: Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and… read more here.

Keywords: congenital cataracts; genetic mechanism; syndromic congenital; molecular genetic ... See more keywords