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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書誌詳細
出版年:Hum Genet
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
Article
オンライン･アクセス: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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