Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or PKD2. Clinical diagnosis is usually by age-dependent imaging criteria, which is challenging in patients with atypical clinical features, without...

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發表在:Eur J Hum Genet
Main Authors: Mallawaarachchi, Amali C., Lundie, Ben, Hort, Yvonne, Schonrock, Nicole, Senum, Sarah R., Gayevskiy, Velimir, Minoche, Andre E., Hollway, Georgina, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, Michel, Mallett, Andrew, Dinger, Marcel E., Rangan, Gopala, Cowley, Mark J., Harris, Peter C., Burnett, Leslie, Shine, John, Furlong, Timothy J.
格式: Artigo
語言:Inglês
出版: Springer International Publishing 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8110527/
https://ncbi.nlm.nih.gov/pubmed/33437033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00796-4
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