Angelman syndrome in two siblings: clinical case

• 主要な著者: Uliyana S. Suraeva (著者), Olga M. Matyasova (著者), Anna V. Monakhova (著者), Alla Yu. Shutkova (著者), Elena V. Tush (著者), Elena E. Yatsyshina (著者), Marina A. Suslova (著者), Olga V. Khaletskaya (著者)
• フォーマット: 図書
• 出版事項: Union of pediatricians of Russia, 2023-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...