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

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

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

di 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.
Pubblicazione 2012