Rubinstein–Taybi syndrome

Show Summary Details

Quick Reference

A syndrome characterized by mental retardation, broad thumbs and toes, and facial abnormalities that can be caused by mutation in the gene encoding CREB-binding protein or in the EP300 gene (see p300). A severe form of the syndrome is a result of chromosome 16p13.3 deletion.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.