A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11 : A Case Report and Literature Review
一种复杂的神经发育表型,类似于染色质病变,伴有7p重复和10p缺失,涉及ZMYND11基因:病例报告及文献综述
期刊:European Heart Journal
影响因子:35.6
doi:10.1093/eurheartj/ehp194
Tolosana, Jose M; Berne, Paola; Mont, Lluis; Heras, Magda; Berruezo, Antonio; Monteagudo, Joan; Tamborero, David; Benito, Begoña; Brugada, Josep; Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele