Ontology highlight
ABSTRACT:
SUBMITTER: Riguetti MTP
PROVIDER: S-EPMC7525155 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Riguetti Michelle T P MTP Varela Patrícia P Fernandes Danilo E DE Polito M Goretti MG Casimiro Fernanda M FM Pesquero João B JB Mastroianni-Kirsztajn Gianna G
Frontiers in genetics 20200916
<h4>Introduction</h4>Pathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS). A more precise genotype-phenotype correlation would be helpful to better characterize the clinical and laboratorial manifestations of this disease, as well as response to treatment. We analyzed podocin (<i>NPHS2</i>) gene variants in 50 members of four generations of a family with late-onset presentation of glomerular disease.<h4>Re ...[more]