Article
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Acta neuropathologica - 1 Jul 2014
de Kock Leanne, Sabbaghian Nelly, Plourde François, Srivastava Archana, Weber Evan, Bouron-Dal Soglio Dorothée, Hamel Nancy, Choi Joon Hyuk, Park Sung-Hye, Deal Cheri L, Kelsey Megan M, Dishop Megan K, Esbenshade Adam, Kuttesch John F, Jacques Thomas S, Perry Arie, Leichter Heinz, Maeder Philippe, Brundler Marie-Anne, Warner Justin, Neal James, Zacharin Margaret, Korbonits Márta, Cole Trevor, Traunecker Heidi, McLean Thomas W, Rotondo Fabio, Lepage Pierre, Albrecht Steffen, Horvath Eva, Kovacs Kalman, Priest John R, Foulkes William D
Abstract excerpt
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III c...
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