Abstract | BACKGROUND: Heterozygous gene mutations in fumarate hydratase can result in a syndrome characterized by hereditary (cutaneous and uterine) leiomyomatosis and renal cell cancer. This disorder has been described in more than 200 families, but the prevalence of the disease is unknown. CASE: CONCLUSION:
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Authors | Merry Lynn Mann, Mohammad Ezzati, Edward D Tarnawa, Bruce R Carr |
Journal | Obstetrics and gynecology
(Obstet Gynecol)
Vol. 126
Issue 1
Pg. 90-2
(Jul 2015)
ISSN: 1873-233X [Electronic] United States |
PMID | 25923021
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Codon, Nonsense
- Genetic Markers
- Fumarate Hydratase
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Topics |
- Carcinoma, Renal Cell
(genetics)
- Codon, Nonsense
- Female
- Fumarate Hydratase
(genetics)
- Genetic Markers
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Kidney Neoplasms
(genetics)
- Leiomyomatosis
(diagnosis, genetics)
- Male
- Pedigree
- Uterine Neoplasms
(diagnosis, genetics)
- Young Adult
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