Angelman syndrome in two siblings: clinical case

• मुख्य लेखकों: Uliyana S. Suraeva (लेखक), Olga M. Matyasova (लेखक), Anna V. Monakhova (लेखक), Alla Yu. Shutkova (लेखक), Elena V. Tush (लेखक), Elena E. Yatsyshina (लेखक), Marina A. Suslova (लेखक), Olga V. Khaletskaya (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Union of pediatricians of Russia, 2023-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...