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  • Title: The Aircardi-Goutières syndrome: variable clinical expression in two siblings.
    Author: Verrips A, Hiel JA, Gabreëls FJ, Wesseling P, Rotteveel JJ.
    Journal: Pediatr Neurol; 1997 May; 16(4):323-5. PubMed ID: 9258967.
    Abstract:
    We report 2 siblings with the Aicardi-Goutières syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.
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