Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
EP300 和 ANKRD11 中的致病变异在具有与 Cornelia de Lange 综合征重叠表型的患者中
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.61611
Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, Beatriz Puisac, Feliciano J Ramos, Juan Pié, Antonio Musio
