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New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome

✍ Scribed by KT Suzuki; LC Torres; SMM Sugayama; B da Costa Aguiar Alves; CA Moreira-Filho; M Carneiro-Sampaio

Book ID
119981566
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
479 KB
Volume
83
Category
Article
ISSN
0009-9163

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## Communicated by Paolo M. Fortina Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome characterized by facial abnormalities, broad thumbs, broad big toes, and growth and mental retardation as the main clinical features. RTS was shown to be associated with disruption of the CREB-binding pr