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

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...

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Bibliografske podrobnosti
izdano v:Hum Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5783298/
https://ncbi.nlm.nih.gov/pubmed/27878435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1747-6
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