Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Abstract

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… (More)
DOI: 10.1007/s00439-016-1747-6

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@article{Patel2016NovelPA, title={Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract}, author={Nisha Patel and Deepti Anand and Dorota Monies and Sateesh Maddirevula and Arif Khan and Talal Algoufi and Mohammed A Alowain and Eissa Ali Faqeih and M. H. Alshammari and Ahmed Qudair and Hadeel Alsharif and Fatimah Aljubran and Hessa S. Alsaif and Niema Ibrahim and Firdous M. Abdulwahab and Ranad Shaheen and Haifa Alsedairy and Mohammed A. Aldahmesh and Salil A Lachke and Fowzan Sami Alkuraya}, journal={Human Genetics}, year={2016}, volume={136}, pages={205-225} }