𝔖 Bobbio Scriptorium
✦   LIBER   ✦

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

✍ Scribed by Cristina Gervasini; Paola Castronovo; Angela Bentivegna; Federica Mottadelli; Francesca Faravelli; Maria Luisa Giovannucci-Uzielli; Alice Pessagno; Emanuela Lucci-Cordisco; Anna Maria Pinto; Leonardo Salviati; Angelo Selicorni; Romano Tenconi; Giovanni Neri; Lidia Larizza


Book ID
116981721
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
439 KB
Volume
90
Category
Article
ISSN
0888-7543

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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