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

• Hauptverfasser: Anastasiia N. Vertianova (Verfasst von), Anna V. Monakhova (Verfasst von), Ulyana S. Suraeva (Verfasst von), Olga M. Matiasova (Verfasst von), Alla Yu. Shutkova (Verfasst von), Elena V. Tush (Verfasst von), Elena E. Yacishina (Verfasst von), Marina A. Suslova (Verfasst von), Olga V. Khaletskaya (Verfasst von)
• Format: Buch
• Veröffentlicht: Union of pediatricians of Russia, 2024-05-01T00:00:00Z.
• Schlagworte: article
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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...