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Eur J Hum Genet. 2006 Sep;14(9):981-5. Epub 2006 Jul 26.

Rubinstein-Taybi syndrome.

Author information

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

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.

PMID:
16868563
DOI:
10.1038/sj.ejhg.5201594
[Indexed for MEDLINE]
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