Rubinstein-Taybi syndrome.
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.
Hennekam
Raoul C M
RC
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK. r.hennekam@ich.ucl.ac.uk
D050882:CREB-Binding Protein / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D050880:p300-CBP Transcription Factors / Q000235:genetics*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D050880:p300-CBP Transcription Factors