Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings

摘要

Fumarate hydratase (FH) plays an important role in cell metabolism. Germline mutation of may cause hereditary leiomyomatosis and renal cell cancer syndrome. The correlation between various mutations of gene and the phenotype is controversial and needs further study. Therefore, this article described a novel mutation in siblings with multiple uterine leiomyomas.