1. Rubinstein-Taybi syndrome.
- Author
-
Hennekam RC
- Subjects
- Chromosomes, Human, Pair 16, Cloning, Molecular, Genetic Counseling, Genetic Heterogeneity, Humans, Male, Rubinstein-Taybi Syndrome therapy, CREB-Binding Protein genetics, Rubinstein-Taybi Syndrome diagnosis, Rubinstein-Taybi Syndrome etiology, p300-CBP Transcription Factors genetics
- Abstract
In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.
- Published
- 2006
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