A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

OBJECTIVES: Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding typ...

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Detalles Bibliográficos
Autores principales: Sienes Bailo, Paula, Bancalero Flores, José Luis, Lahoz Alonso, Raquel, Santamaría González, María, Gutiérrez Dalmau, Alex, Álvarez de Andrés, Sara, Izquierdo Álvarez, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197298/
https://www.ncbi.nlm.nih.gov/pubmed/37362409
http://dx.doi.org/10.1515/almed-2021-0058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197298/
https://www.ncbi.nlm.nih.gov/pubmed/37362409
http://dx.doi.org/10.1515/almed-2021-0058

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