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

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...

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Main Authors: Anastasiia N. Vertianova (Author), Anna V. Monakhova (Author), Ulyana S. Suraeva (Author), Olga M. Matiasova (Author), Alla Yu. Shutkova (Author), Elena V. Tush (Author), Elena E. Yacishina (Author), Marina A. Suslova (Author), Olga V. Khaletskaya (Author)
Format: Book
Published: Union of pediatricians of Russia, 2024-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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