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Rubinstein Taybi syndrome
Glossaries
| Term | Main definition |
|---|---|
| Rubinstein Taybi syndrome | Glossaries - Disabilities Glossaries Description - An A to Z glossary of disabilities Also known as RTS, Rubinstein Taybi syndrome is a condition which can affect physical appearance and intelligence. Those with Rubinstein Taybi syndrome can be born with distinctive facial features, oversized thumbs and toes as well as a degree of a learning disability. The condition is caused by the mutation in the EP300 or CREBBP gene or a small loss of genetic material from the chromosome 16 which represents around 3% of the total DNA in cells. Hits - 344 |
