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

Objective: To describe a case of a personal and family history of early uterine leiomyomatosis that revealed a pathogenic variant in the FH gene encoding fumarate hydratase. After the patient’s diagnosis, a first-degree relative was detected with early-stage renal cell carcinoma. The patient decided...

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Bibliographic Details
Main Authors: Greysha Rivera-Cruz, M.D., Baris Boyraz, M.D., Ph.D., John C. Petrozza, M.D.
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:F&S Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666334121001185