Article
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
American journal of medical genetics. Part A - 1 Sept 2022
Awan Neelam, Pearson Effie, Shelley Lauren, Greenhill Courtney, Tarver Joanne, Waite Jane
Abstract excerpt
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The...
Topics
- Genotype
- Humans
- Intellectual Disability
- Phenotype
- Rubinstein-Taybi Syndrome