Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige; Helen Storey; E. Watson; Jens Michael Hertz; Constantinos Deltas

doi:10.1038/s41431-021-00858-1

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci...

Springer Nature (2021) • Volume 29, Issue 8, Pages 1186-1197

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Publication Info

DOI

10.1038/s41431-021-00858-1

Language

English

Topic

Cell Adhesion Molecules Research

Keywords

Alport syndrome, Focal segmental glomerulosclerosis, Genetics, Glomerulonephritis, Biology, Glomerulosclerosis, Medicine, Kidney, Proteinuria

Published

April 15, 2021

Citations

114 citations

FWCI

15.70

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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

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Publication Info

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