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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Detalhes bibliográficos
Publicado no:Hum Genet
Principais autores: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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