Angelman syndrome in two siblings: clinical case

• Main Authors: Uliyana S. Suraeva (Author), Olga M. Matyasova (Author), Anna V. Monakhova (Author), Alla Yu. Shutkova (Author), Elena V. Tush (Author), Elena E. Yatsyshina (Author), Marina A. Suslova (Author), Olga V. Khaletskaya (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Angelman syndrome (AS) is rare genetic disease characterized by severe mental retardation, gross developmental speech delay, facial dysmorphia, disorders of motor activity, behavior and sleep, epileptic seizures manifestation. Pathology refers to diseases of genomic imprinting. There are...