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Article

Digenic Alport Syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 Nov 2022

Savige Judy, Renieri Alessandra, Ars Elisabet, Daga Sergio, Pinto Anna Maria, Rothe Hansjorg, Gale Daniel P, Aksenova Marina, Cerkauskaite Agne, Bielska Olga, Lipska-Zietkiewicz Beata, Gibson Joel T

Abstract excerpt

Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected individual, COL4A5 variant "severity," and the nature of the COL4A3 or COL4A4 change. A man with a pathogenic COL4A5 variant has all his collagen IV...

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Identifiers

PMID: 35675912
DOI: 10.2215/CJN.03120322
PMCID: PMC9718039

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