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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izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2021
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Article
Online dostop: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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