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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出版年:Genet Med
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group US 2020
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Article
オンライン･アクセス: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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