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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....
Gardado en:
| Publicado en: | Genet Med |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group US
2020
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| Assuntos: | |
| Acceso en liña: | 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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