Rubinstein-Taybi syndrome

Raoul C M Hennekam

doi:10.1038/sj.ejhg.5201594

Rubinstein-Taybi syndrome

Eur J Hum Genet. 2006 Sep;14(9):981-5. doi: 10.1038/sj.ejhg.5201594. Epub 2006 Jul 26.

Author

Raoul C M Hennekam¹

Affiliation

¹ Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK. r.hennekam@ich.ucl.ac.uk

PMID: 16868563
DOI: 10.1038/sj.ejhg.5201594

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.

Publication types

Review

MeSH terms

CREB-Binding Protein / genetics*
Chromosomes, Human, Pair 16
Cloning, Molecular
Genetic Counseling
Genetic Heterogeneity
Humans
Male
Rubinstein-Taybi Syndrome / diagnosis*
Rubinstein-Taybi Syndrome / etiology*
Rubinstein-Taybi Syndrome / therapy
p300-CBP Transcription Factors / genetics*

Substances

CREB-Binding Protein
CREBBP protein, human
p300-CBP Transcription Factors