[1]Hallam TM,BourtchouladzeR.Rubinstein-Taybi syndrome:molecular findings and therapeutic approaches to improve cognitive dysfunction[J].Cell Mol Life Sci,2006,63(15):1725-1735.
[2]Catapano R,Gossweiler S,Bourtchouladze R,et al. A mouse model of Rubinstein-Taybi syndrome:defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4[J]. Proc Natl Acad Sci USA,2003,100(18):10518-10522.
[3]Petrij F,Giles RH,Dauwerse HG,et al.Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP[J].Nature,1995,376:348-351.
[4] Hennekam RC. Rubinstein-Taybi syndrome[J]. Eur J Hum Genet,2006,14(9):981-985.
[5]Roelfsema JH,Peters DJM.Rubinstein-Taybi syndrome:clinical and molecular overview[J].Expert Rev Mol Med,2007,9(23):16.
[6]Fergelot P,van Belzen M,van Gils J,et al.Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations[J]. Am J Med Genet A,2016,170:3069-3082.
[7] 俞莎,吴冰冰,周文浩,等.Rubinstein-Taybi 综合征1例报告并文献复习[J].中国循证儿科杂志,2017,12(3):233-235.
[8] Milani D,Manzoni FM,Pezzani L,et al. Rubinstein-Taybi syndrome:clinical features,genetic basis,diagnosis,and management[J]. Ital J Pediatr,2015,41:4.
[9] Menke LA,van Belzen MJ,Alders M,et al.CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype[J].Am J Med Genet A,2016,170(10):2681-2693.
[10] Davidovich E,Eimerl DB. Dental treatment of a child with Rubinstein-Taybi syndrome[J].Pediatr Dent,2005,27(5):385-388.
[11] Mehlman CT,Rubinstein JH,Roy DR.Instability of the patellofemoral joint in Rubinstein-Taybi syndrome[J].J Pediatr Orthop,1998,18(4):508.
[12]Miller RW,Rubinstein JH.Tumors in Rubinstein-Taybi syndrome[J].Am J Medical Genet,2010,56(1):112-115.
[13] Greco E,Sglavo G,Paladini D.Prenatal sonographic diagnosis of Rubinstein-Taybi syndrome[J].J Ultrasound Med,2009,28(5):669-672.
[14] 李媛,何山,朱鸿玲. 1例Rubinstein-Taybi 综合征的临床及CREBBP 基因新突变分析[J].中国当代儿科杂志,2017,19(11):1155-1158.
[15] Murata T,Kurokawa R,Krones A,et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome[J]. Human Molecular Genetics,2001,10(10):1071-1076.