Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RC...

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Detalles Bibliográficos
Autores principales: Ueki, Arisa, Sugano, Kokichi, Misu, Kumiko, Aimono, Eriko, Nakamura, Kohei, Tanishima, Shigeki, Tanaka, Nobuyuki, Mikami, Shuji, Hirasawa, Akira, Ando, Miho, Yoshida, Teruhiko, Oya, Mototsugu, Nishihara, Hiroshi, Kosaki, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347438/
https://www.ncbi.nlm.nih.gov/pubmed/34360727
http://dx.doi.org/10.3390/ijms22157962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347438/
https://www.ncbi.nlm.nih.gov/pubmed/34360727
http://dx.doi.org/10.3390/ijms22157962

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