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Article

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

Pediatric neurology - 1 May 1997

Verrips A, Hiel J A, Gabreëls F J, Wesseling P, Rotteveel J J

Abstract excerpt

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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Identifiers

PMID: 9258967
DOI: 10.1016/s0887-8994(97)00028-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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