Abstract:This article presents a case report of hereditary leiomyomatosis and renal cell cancer (HLRCC) with new mutation in a 25-year-old female patient admitted to the clinic for diagnosis and treatment due to multiple skin and uterus leiomyomas. The patient has a history of surgery to remove adrenal pheochromocytoma and papillary kidney cancer. Clinical and laboratory examination as well as medical genetic counseling of the patient were performed. We have detected the heterozygous c.395_399del (p.L132*) germline non… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.