Article
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Human genetics - 1 Feb 2017
Patel Nisha, Anand Deepti, Monies Dorota, Maddirevula Sateesh, Khan Arif O, Algoufi Talal, Alowain Mohammed, Faqeih Eissa, Alshammari Muneera, Qudair Ahmed, Alsharif Hadeel, Aljubran Fatimah, Alsaif Hessa S, Ibrahim Niema, Abdulwahab Firdous M, Hashem Mais, Alsedairy Haifa, Aldahmesh Mohammed A, Lachke Salil A, Alkuraya Fowzan S
Abstract excerpt
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported...
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