论文信息 - Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - 字舞流文

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries | P. Fergelot | W. Reardon | R. Hennekam | A. Shaw | A. Nordgren | R. Touraine | A. Afenjar | A. Verloes | K. Lachlan | D. Lacombe | J. Roume | J. Rankin | B. Maranda | C. Stumpel | D. Peters | R. Śmigiel | Simon N. Thomas | N. Dorison | B. Arveiler | M. Gérard | D. Josifova | L. Larizza | C. Vincent‐Delorme | M. Rio | C. Francannet | A. Goldenberg | P. Terhal | M. V. van Belzen | P. Parent | D. Geneviève | S. Maas | J. Moilanen | L. Burglen | C. Armour | J. Dupont | A. Stembalska | S. García-Miñaúr | J. Wincent | T. Busa | C. Gervasini | O. Bartsch | S. Gebre-Medhin | J. Van Gils | J. Deforges | A. Sojo | Lex Beets | Marie Collet | Elena Domínguez Garrido | E. Gabau Vila | Blanca Gener Querol | Benjamin Solomon | Francisco Suárez | B. Gener Querol | S. Thomas