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QA Team Lead at Genomenon, Genetic Counselor, PhD Student, Former Rockette

Dr. Cecil Alport reported on a phenotype familial pattern of blood in the urine, kidney disease, and hearing loss termed "Hereditary Familial Congenital Haemorrhagic Nephritis" in 1927. This is referenced as the first publication that eventually has lead to establishment of "Alport syndrome". We have come some far! We have gone from 1st recognizing more severe X-linked and AR causes to dominant with reduced penetrance and variable expressivity presentations. See a recent review and the original 1927 publication links below. #genechat #Alportsyndrome #NKF https://lnkd.in/gYAmqHDV https://lnkd.in/gBgdefXy

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