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Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene locat...

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Detalles Bibliográficos
Autores principales: Gunnala, Vinay, Pereira, Nigel, Irani, Mohamad, Lilienthal, Debra, Pirog, Edyta C., Soslow, Robert, Caputo, Thomas A., Elias, Rony, Kligman, Isaac, Rosenwaks, Zev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908258/
https://www.ncbi.nlm.nih.gov/pubmed/28700432
http://dx.doi.org/10.1097/PGP.0000000000000423