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

BACKGROUND: Focal 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. METHODS: In this report, we describe a sibling pair with NUP93...

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Detalles Bibliográficos
Autores principales: Cason, Rachel K., Williams, Anna, Chryst-Stangl, Megan, Wu, Guanghong, Huggins, Kinsie, Brathwaite, Kaye E., Lane, Brandon M., Greenbaum, Larry A., D’Agati, Vivette D., Gbadegesin, Rasheed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301271/
https://www.ncbi.nlm.nih.gov/pubmed/35874595
http://dx.doi.org/10.3389/fped.2022.915174

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