Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

• Principais autores: Anastasiia N. Vertianova (Autor), Anna V. Monakhova (Autor), Ulyana S. Suraeva (Autor), Olga M. Matiasova (Autor), Alla Yu. Shutkova (Autor), Elena V. Tush (Autor), Elena E. Yacishina (Autor), Marina A. Suslova (Autor), Olga V. Khaletskaya (Autor)
• Formato: Livro
• Publicado em: Union of pediatricians of Russia, 2024-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Background. Proud syndrome is rare inherited disease with X-linked inheritance associated with mutations in the homeobox gene ARX. Typical clinical signs of this syndrome are severe mental retardation, intractable epilepsy, agenesis (dysgenesis) of corpus callosum. Less common features are genital a...