Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

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 featu...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564499/
https://ncbi.nlm.nih.gov/pubmed/15937070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033506
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