Angelman syndrome in two siblings: clinical case

• Главные авторы: Uliyana S. Suraeva (Автор), Olga M. Matyasova (Автор), Anna V. Monakhova (Автор), Alla Yu. Shutkova (Автор), Elena V. Tush (Автор), Elena E. Yatsyshina (Автор), Marina A. Suslova (Автор), Olga V. Khaletskaya (Автор)
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• Опубликовано: Union of pediatricians of Russia, 2023-03-01T00:00:00Z.
• Предметы: article
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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...