Molecular diagnostic yield for COL4A3/4/5 across clinical phenotypes suggestive of Alport Syndrome in 2 health system-based cohorts and a clinical cohort

https://storage.unitedwebnetwork.com/files/1099/04fb6c321887af9555c8fec984d68da9.pdf
Molecular diagnostic yield for COL4A3/4/5 across clinical phenotypes suggestive of Alport Syndrome in 2 health system-based cohorts and a clinical cohort
Alexander
Chang
Kyle Retterer kretterer1@geisinger.edu Geisinger Genomic Science Danville
Karyn Murphy kmurphy9@geisinger.edu Geisinger Genomic Science Danville
Janewit Wongboonsin JWONGBOONSIN@RESEARCH.BWH.HARVARD.EDU Siriraj Hospital, Mahidol University Nephrology Bangkok
Melissa Kelly makelly2@geisinger.edu Geisinger Genomic Science Danville
Erik Biros erik.biros@jcu.edu.au James Cook University Medicine Townsville
Andrew Mallett Andrew.Mallett@health.qld.gov.au James Cook University Medicine Townsville
Matthew Sampson Matthew.Sampson@childrens.harvard.edu Boston Children's Hospital Nephrology Boston