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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
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Article
Acesso em linha: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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