Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

بواسطة Moreira, Marilia Borges, Quaio, Caio Robledo DC, Zandoná-Teixeira, Aline Cristina, Novo-Filho, Gil Monteiro, Zanardo, Evelin Aline, Kulikowski, Leslie Domenici, Kim, Chong Ae
منشور في 2013

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

بواسطة Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
منشور في 2012