The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

Disease-causing variants in COL4A3-5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linked and a proposed digenic inheritance. Initial symp...

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Bibliographic Details
Main Authors: Jasmina Ćomić, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Medicine
Subjects:
type-IV-collagen-related nephropathy
Alport syndrome
COL4A3
COL4A4
COL4A5
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.957733/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2022.957733/full

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