Article
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
European journal of human genetics : EJHG - 1 Sept 2001
Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann D R
Abstract excerpt
Hereditary predisposition to lipomas is observed in familial multiple lipomatosis (OMIM 151900) and benign cervical lipomatosis (OMIM 151800) and can also be associated with mutations in the MEN1 and PTEN genes (OMIM 131100 and 153480, respectively). In addition, a recent report indicates that a few patients with hereditary retinoblastoma also have lipomas. Here we report on an extended family segregating a...
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