Revealing hidden genetic diagnoses in the ocular anterior segment disorders

PURPOSE: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion....

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Gepubliceerd in:Genet Med
Hoofdauteurs: Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group US 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521990/
https://ncbi.nlm.nih.gov/pubmed/32499604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0854-x
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