Angelman syndrome in two siblings: clinical case

• Principais autores: Uliyana S. Suraeva (Autor), Olga M. Matyasova (Autor), Anna V. Monakhova (Autor), Alla Yu. Shutkova (Autor), Elena V. Tush (Autor), Elena E. Yatsyshina (Autor), Marina A. Suslova (Autor), Olga V. Khaletskaya (Autor)
• Formato: Livro
• Publicado em: Union of pediatricians of Russia, 2023-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...