Article
[Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 25 Mar 2024
Yang S H, Liu H R, Li J Y, Zhang Y, Liu Z Q, Wang L, Chen X L, Shangguan S F
Abstract excerpt
Objective: To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype. Methods: This case series study was performed on pediatric patients who were referred to the Children's Hospital of Capital Institute of Pediatrics between January 2013 and July 2022. Both point variant and copy number deletion in CREBBP...
Topics
- Male
- Female
- Child
- Humans
- Child, Preschool
- Rubinstein-Taybi Syndrome
- DNA Copy Number Variations
- Genotype
- Phenotype
- Genetic Testing
- CREB-Binding Protein
- Mutation