Article
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Journal of medical genetics - 1 Jan 2006
Wei M-H, Toure O, Glenn G M, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner M L, Walther M M, Merino M J, Zbar B, Linehan W M, Toro J R
Abstract excerpt
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH). Here we characterise the clinical and genetic features of 21 new families and present the first report of two African-American families with HLRCC. METHODS: Using...
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