Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

• Main Authors: María López (Author), Alberto García-Oguiza (Author), Judith Armstrong (Author), Inmaculada García-Cobaleda (Author), Sixto García-Miñaur (Author), Fernando Santos-Simarro (Author), Verónica Seidel (Author), Elena Domínguez-Garrido (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We...