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COL4A4 variant recently identified: lessons learned in variant interpretation—a case report

BACKGROUND: Alport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria. Although there have been reports of autosomal dominant COL4A4 variants, this is likely an underdiagnosed condition. Improved access to affordable genetic testing has increased the diagnosis of Alpo...

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Detalles Bibliográficos
Autores principales:	Cocorpus, Jenelle, Hager, Megan M, Benchimol, Corinne, Bijol, Vanesa, Salem, Fadi, Punj, Sumit, Castellanos, Laura, Singer, Pamela, Sethna, Christine B, Basalely, Abby
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287857/ https://www.ncbi.nlm.nih.gov/pubmed/35842573 http://dx.doi.org/10.1186/s12882-022-02866-9

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