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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Vydáno v:Genet Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group US 2020
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Article
On-line přístup: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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