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...

詳細記述

書誌詳細
主要な著者: Parmentier, L, Tomlinson, I, Happle, R, Borradori, L
フォーマット: Journal article
言語:English
出版事項: 2010