Rubinstein-Taybi syndrome

被引：221

作者：

Hennekam, Raoul C. M.

机构：

[1] UCL, Great Ormond St Hosp Children, Clin & Mol Genet Unit, Inst Child Hlth, London WC1N 1EH, England

[2] Univ Amsterdam, Dept Paediat, AMC, Amsterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 09期

关键词：

Rubinstein-Taybi syndrome; CBP; p300; diagnostic algorithm; management;

D O I：

10.1038/sj.ejhg.5201594

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：981 / 985

页数：5

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