A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

被引:0
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作者
Santoro, Elisa [1 ]
Marini, Romana [1 ]
Novelli, Antonio [2 ]
Alesi, Viola [2 ]
Dentici, Maria Lisa [3 ]
Cappa, Marco [1 ]
机构
[1] Bambino Gesu Childrens Hosp IRCCS, Dept Endocrinol & Diabet, Rome, Italy
[2] Bambino Gesu Childrens Hosp IRCCS, Med Genet Lab, Rome, Italy
[3] Bambino Gesu Childrens Hosp IRCCS, Med Genet Unit, Rome, Italy
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R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-P816
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页码:452 / 453
页数:2
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