Publications by authors named "Livia Maria Gruli Barbosa"
A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.
Maria Luíza Gonçalves Dos Reis Monteiro Fabiano Bichuette Custódio Precil Diego Miranda de Menezes Neves Frederico Moraes Ferreira Elieser Hitoshi Watanabe Lívia Maria Gruli Barbosa
BMC Nephrol
August 2019
Background: Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated with proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, the gene that encodes fibronectin.
Case Presentation: This report describes two cases of Glomerulopathy with fibronectin deposits, involving a 47-year-old father and a 14-year-old son.