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- DOI: 10.1002/ajmg.a.30250
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Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.
Crow, YJ, Massey, R, Innes, J, Pairaudeau, P, Rowland Hill, C, Woods, C, Ali, M, Livingston, J, Lebon, P, Nischall, K, McEntagart, M, Hindocha, N, Winter, R
Am J Med Genet A. 2004;129A( 3):303-7.
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Full-text held externally
- DOI: 10.1002/ajmg.a.30250
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.
Keyword(s)
Atrophy; Fatal Outcome; Female; Humans; Infant; Male; Tomography, X-Ray Computed; pathology: Abnormalities, Multiple; pathology: Brain Stem; pathology: Glaucoma; pathology: Neurodegenerative Diseases