The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

Aad Verrips; Johan A.P. Hiel; Fons J.M. Gabreëls; Pieter Wesseling; Jan J. Rotteveel

doi:10.1016/S0887-8994(97)00028-3

The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

Aad Verrips, Johan A.P. Hiel, Fons J.M. Gabreëls, Pieter Wesseling, Jan J. Rotteveel

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

23 Citaten (Scopus)

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We report 2 siblings with the Aicardi-Goutieres 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.

Originele taal-2	Engels
Pagina's (van-tot)	323-325
Aantal pagina's	3
Tijdschrift	Pediatric Neurology
Volume	16
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1016/S0887-8994(97)00028-3
Status	Gepubliceerd - mei 1997
Extern gepubliceerd	Ja

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title = "The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings",

abstract = "We report 2 siblings with the Aicardi-Goutieres 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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AU - Wesseling, Pieter

AU - Rotteveel, Jan J.

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AB - We report 2 siblings with the Aicardi-Goutieres 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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The Aicardi-Goutieres syndrome: Variable clinical expression in two siblings

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