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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Greysha Rivera-Cruz, M.D (Yazar), Baris Boyraz, M.D., Ph.D (Yazar), John C. Petrozza, M.D (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: Elsevier, 2022-03-01T00:00:00Z.
Konular:
Online Erişim:Connect to this object online.
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Internet

Connect to this object online.

3rd Floor Main Library

Detaylı Erişim Bilgileri 3rd Floor Main Library
Yer Numarası: A1234.567
Kopya Bilgisi 1 Kütüphanede