Novel Pathogenic Variant of Fumarate Hydratase in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Case Report
1.1. Background: Hereditary leiomyomatosis and renal cell car cinoma syndrome (HLRCC) is a rare genetic disease, which is caused by the mutation of fumarate hydratase (FH) gene and in herited by autosomal dominance.