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| A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation |
| Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang |
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Clin Exp Pediatr. 2010;53(6):718-721. Published online June 23, 2010 DOI: https://doi.org/10.3345/kjp.2010.53.6.718 |
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Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice Brain Research. 2020;1749:147140  New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case report . 2020; A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation Korean Journal of Pediatrics. 2010;53(6):718 A Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene . 2022; A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features Case Reports in Immunology. 2022;2022:1-5 Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography Congenital Anomalies. 2005;45(4):125-131 A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome . 2022; Rubinstein Syndrome (Rubinstein-Taybi syndrome, RSTS, 16p13.3) Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 2008;1745-1745 Congenital glaucoma associated with Rubinstein-Taybi syndrome Acta Ophthalmologica Scandinavica. 1998;76(1):112-113 A CASE OF THE RUBINSTEIN-TAYBI SYNDROME Acta Ophthalmologica. 2009;47(1):33-38 |
