Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations

• Main Authors: Rachel K. Cason (Author), Anna Williams (Author), Megan Chryst-Stangl (Author), Guanghong Wu (Author), Kinsie Huggins (Author), Kaye E. Brathwaite (Author), Brandon M. Lane (Author), Larry A. Greenbaum (Author), Vivette D. D'Agati (Author), Rasheed A. Gbadegesin (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

BackgroundFocal segmental glomerulosclerosis (FSGS) is a major cause of end stage kidney disease, with the collapsing form having the worst prognosis. Study of families with hereditary FSGS has provided insight into disease mechanisms.MethodsIn this report, we describe a sibling pair with NUP93 muta...