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Sporadic Case of Heterozygous X-Linked Alport Syndrome

Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes. The disorder results from mutations in the collagen IV genes COL4A...

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Detalles Bibliográficos
Autores principales: Zuckerman, Jonathan E., Srivastava, Rachana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601899/
https://www.ncbi.nlm.nih.gov/pubmed/37901703
http://dx.doi.org/10.1159/000530994