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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2023
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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 |