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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 |
Clin Exp Pediatr. 2010;53(6):718-721. Published online June 23, 2010 DOI: https://doi.org/10.3345/kjp.2010.53.6.718 |
Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case report A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation A Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome Rubinstein Syndrome (Rubinstein-Taybi syndrome, RSTS, 16p13.3) Congenital glaucoma associated with Rubinstein-Taybi syndrome A CASE OF THE RUBINSTEIN-TAYBI SYNDROME |