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Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

BACKGROUND: Alport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS. CASE PRESENTATION: The proband was a 12-year-old boy diagnosed with AS coexisting wit...

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Detalles Bibliográficos
Autores principales: Wang, Ying, He, Qingnan, Dang, Xiqiang, Wu, Xiaochuan, Li, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102471/
https://www.ncbi.nlm.nih.gov/pubmed/37063668
http://dx.doi.org/10.3389/fped.2023.1107280