Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. [electronic resource]
Producer: 20110411Description: 1337-9 p. digitalISSN:- 1365-2133
- Carcinoma, Renal Cell -- genetics
- Charcot-Marie-Tooth Disease -- genetics
- Collagen Diseases -- genetics
- Fumarate Hydratase -- genetics
- Genetic Predisposition to Disease
- Humans
- Leiomyomatosis -- enzymology
- Male
- Mutation
- Scalp Dermatoses -- genetics
- Sequence Analysis, DNA
- Skin Diseases -- genetics
- Skin Neoplasms -- enzymology
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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