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 de...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier Inc.
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |