Article
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
JAMA - 5 Jan 2011
Rio Frio Thomas, Bahubeshi Amin, Kanellopoulou Chryssa, Hamel Nancy, Niedziela Marek, Sabbaghian Nelly, Pouchet Carly, Gilbert Lucy, O'Brien Paul K, Serfas Kim, Broderick Peter, Houlston Richard S, Lesueur Fabienne, Bonora Elena, Muljo Stefan, Schimke R Neil, Bouron-Dal Soglio Dorothée, Arseneau Jocelyne, Schultz Kris Ann, Priest John R, Nguyen Van-Hung, Harach H Rubén, Livingston David M, Foulkes William D, Tischkowitz Marc
Abstract excerpt
CONTEXT: Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that codes for an RNase...
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