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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Detalles Bibliográficos
Autores principales: Ćomić, Jasmina, Riedhammer, Korbinian M., Günthner, Roman, Schaaf, Christian W., Richthammer, Patrick, Simmendinger, Hannes, Kieffer, Donald, Berutti, Riccardo, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Putnik, Jovana, Stajic, Nataša, Lungu, Adrian, Gross, Oliver, Renders, Lutz, Heemann, Uwe, Braunisch, Matthias C., Meitinger, Thomas, Hoefele, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9470833/
https://www.ncbi.nlm.nih.gov/pubmed/36117978
http://dx.doi.org/10.3389/fmed.2022.957733

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9470833/
https://www.ncbi.nlm.nih.gov/pubmed/36117978
http://dx.doi.org/10.3389/fmed.2022.957733

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