Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.

BACKGROUND: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to...

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Main Authors: Parmentier, L, Tomlinson, I, Happle, R, Borradori, L
格式: Journal article
语言:English
出版: 2010