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Am J Med Genet A. 2004 Sep 1;129A(3):303-7.

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Author information

1
Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk

Abstract

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.

PMID:
15326633
DOI:
10.1002/ajmg.a.30250
[Indexed for MEDLINE]
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