Article
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
Journal of medical genetics - 1 May 2006
Ali M, Highet L J, Lacombe D, Goizet C, King M D, Tacke U, van der Knaap M S, Lagae L, Rittey C, Brunner H G, van Bokhoven H, Hamel B, Oade Y A, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard M L, Lebon P, Kumar D, Jackson A P, Crow Y J
Abstract excerpt
BACKGROUND: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families...
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