PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Brain Research10.1016/j.brainres.2020.14714020201749147140Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 miceTsuyoshi Takagi, Yujiro Higashi, Masato Asai, Shunsuke Ishiihttps://api.elsevier.com/content/article/PII:S0006899320304984?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0006899320304984?httpAccept=text/plain
10.21203/rs.3.rs-110594/v12020New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case reportDan Wang, Na Liu, Yunbin Xiao, Zhenyu Liao, Zhenghui Xiao, Zhi Chen, Xun Wanghttps://www.researchsquare.com/article/rs-110594/v1, https://www.researchsquare.com/article/rs-110594/v1.html
Korean Journal of Pediatrics10.3345/kjp.2010.53.6.7182010536718A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutationSe Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwanghttp://kjp.or.kr/upload/pdf/kjped-53-718.pdf
10.21203/rs.3.rs-1815122/v12022A Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 geneZhouxian Bai, Gaopan Li, Xiangdong Konghttps://www.researchsquare.com/article/rs-1815122/v1, https://www.researchsquare.com/article/rs-1815122/v1.html
BMC Medical Genomics10.1186/s12920-022-01424-42023161Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 geneZhouxian Bai, Gaopan Li, Xiangdong Konghttps://link.springer.com/content/pdf/10.1186/s12920-022-01424-4.pdf, https://link.springer.com/article/10.1186/s12920-022-01424-4/fulltext.html, https://link.springer.com/content/pdf/10.1186/s12920-022-01424-4.pdf
Case Reports in Immunology10.1155/2022/4970973202220221-5A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome FeaturesUgur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayvahttp://downloads.hindawi.com/journals/crii/2022/4970973.pdf, http://downloads.hindawi.com/journals/crii/2022/4970973.xml, http://downloads.hindawi.com/journals/crii/2022/4970973.pdf
Congenital Anomalies10.1111/j.1741-4520.2005.00081.x2005454125-131Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatographyToru Udaka, Hazuki Samejima, Rika Kosaki, Kenji Kurosawa, Nobuhiko Okamoto, Seiji Mizuno, Yoshio Makita, Hironao Numabe, Joaquin Fernandez Toral, Takao Takahashi, Kenjiro Kosakihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1741-4520.2005.00081.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1741-4520.2005.00081.x/fullpdf
10.21203/rs.3.rs-1566308/v12022A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndromeQian Wang, Cong Wang, Wen Bin Wei, Wei Ning Rong, Xiang Yu Shihttps://www.researchsquare.com/article/rs-1566308/v1, https://www.researchsquare.com/article/rs-1566308/v1.html
Frontiers in Pediatrics10.3389/fped.2023.1059658202311Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP geneYang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chenhttps://www.frontiersin.org/articles/10.3389/fped.2023.1059658/full
Encyclopedia of Genetics, Genomics, Proteomics and Informatics10.1007/978-1-4020-6754-9_1492620081745-1745Rubinstein Syndrome (Rubinstein-Taybi syndrome, RSTS, 16p13.3)http://link.springer.com/content/pdf/10.1007/978-1-4020-6754-9_14926