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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and extrarenal manifestations. In other X-linked d...

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Detalles Bibliográficos
Autores principales:	Günthner, Roman, Knipping, Lea, Jeruschke, Stefanie, Satanoskij, Robin, Lorenz-Depiereux, Bettina, Hemmer, Clara, Braunisch, Matthias C., Riedhammer, Korbinian M., Ćomić, Jasmina, Tönshoff, Burkhard, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Buiting, Karin, Gjorgjievski, Nikola, Momirovska, Ana, Patzer, Ludwig, Kirschstein, Martin, Gross, Oliver, Lungu, Adrian, Weber, Stefanie, Renders, Lutz, Heemann, Uwe, Meitinger, Thomas, Büscher, Anja K., 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/PMC9630586/ https://www.ncbi.nlm.nih.gov/pubmed/36341250 http://dx.doi.org/10.3389/fmed.2022.953643

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