New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3

Alport syndrome (AS) is a clinically and genetically heterogeneous disorder with a wide phenotypic spectrum, onset, and progression. X-linked AS (XLAS) and autosomal recessive AS (ARAS) are severe conditions, whereas the severity of autosomal dominant AS (ADAS) may vary from benign familial hematuri...

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Detalles Bibliográficos
Autores principales: García-Aznar, José María, De la Higuera, Luis, Besada Cerecedo, Lara, Gandiaga, Nerea Paz, Vega, Ana Isabel, Fernández-Fresnedo, Gema, González-Lamuño, Domingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409901/
https://www.ncbi.nlm.nih.gov/pubmed/36013122
http://dx.doi.org/10.3390/jcm11164883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409901/
https://www.ncbi.nlm.nih.gov/pubmed/36013122
http://dx.doi.org/10.3390/jcm11164883

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