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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to result from pathogenic variants in 19 identified genes. In t...

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Detalles Bibliográficos
Autores principales:	Souzeau, Emmanuelle, Siggs, Owen M., Mullany, Sean, Schmidt, Joshua M., Hassall, Mark M., Dubowsky, Andrew, Chappell, Angela, Breen, James, Bae, Haae, Nicholl, Jillian, Hadler, Johanna, Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Mackey, David A., Gupta, Aanchal, Burdon, Kathryn P., Klebe, Sonja, Craig, Jamie E., Mills, Richard A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544209/ https://www.ncbi.nlm.nih.gov/pubmed/35985662 http://dx.doi.org/10.1002/mgg3.2023

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