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Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039481/ https://www.ncbi.nlm.nih.gov/pubmed/30002862 http://dx.doi.org/10.1038/s41439-018-0016-8 |