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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Detalles Bibliográficos
Autores principales: Rivera-Cruz, Greysha, Boyraz, Baris, Petrozza, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978059/
https://www.ncbi.nlm.nih.gov/pubmed/35386501
http://dx.doi.org/10.1016/j.xfre.2021.10.002

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