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A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-ye...

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Detalles Bibliográficos
Autores principales:	Kumagai, Naonori, Matsumoto, Yuji, Kondoh, Tomomi, Ikezumi, Yohei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433376/ https://www.ncbi.nlm.nih.gov/pubmed/36045115 http://dx.doi.org/10.1038/s41439-022-00209-6

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