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Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

✍ Scribed by Stef, Marianne; Simon, Delphine; Mardirossian, Béatrice; Delrue, Marie-Ange; Burgelin, Ingrid; Hubert, Christophe; Marche, Michèle; Bonnet, Françoise; Gorry, Philippe; Longy, Michel


Book ID
110027047
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
108 KB
Volume
15
Category
Article
ISSN
1018-4813

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Analysis of CBP (CREBBP) gene deletions
✍ Isabelle Coupry; Laurence Monnet; Azza Abd El Moneim Attia; Laurence Taine; Didi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB

## 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