Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

• Main Authors: Cinthia Aguilera (Author), Marina Viñas-Jornet (Author), Neus Baena (Author), Elisabeth Gabau (Author), Concepción Fernández (Author), Nuria Capdevila (Author), Sanja Cirkovic (Author), Adrijan Sarajlija (Author), Marijana Miskovic (Author), Danijela Radivojevic (Author), Anna Ruiz (Author), Miriam Guitart (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which i...