학술논문
How a woman’s myomectomy saved her father’s life: evidence of fumarate hydratase–deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase
Document Type
Article
Source
F&S Reports; March 2022, Vol. 3 Issue: 1 p26-31, 6p
Subject
Language
ISSN
26663341
Abstract
To describe a case of a personal and family history of early uterine leiomyomatosis that revealed a pathogenic variant in the FHgene encoding fumarate hydratase. After the patient’s diagnosis, a first-degree relative was detected with early-stage renal cell carcinoma. The patient decided to undergo preimplantation genetic testing to reduce the risk to her future children.