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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...
Autores principales: | Gunnala, Vinay, Pereira, Nigel, Irani, Mohamad, Lilienthal, Debra, Pirog, Edyta C., Soslow, Robert, Caputo, Thomas A., Elias, Rony, Kligman, Isaac, Rosenwaks, Zev |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2018
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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 |
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