How genomics reclassifies diseases: the case of Alport syndrome

In this issue, Matthews et al. provide a comprehensive review of published cohorts with heterozygous pathogenic variants in COL4A3 or COL4A4, documenting the wide spectrum of the disease. Due to the extreme phenotypes that patients with heterozygous pathogenic variants in COL4A3 or COL4A4 may show,...

Descripción completa

Detalles Bibliográficos
Autores principales: Torra, Roser, Furlano, Monica, Ars, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Editorial Comments
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769510/
https://www.ncbi.nlm.nih.gov/pubmed/33391736
http://dx.doi.org/10.1093/ckj/sfaa170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769510/
https://www.ncbi.nlm.nih.gov/pubmed/33391736
http://dx.doi.org/10.1093/ckj/sfaa170

Ejemplares similares