Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and...

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Main Authors: Crow, Y. J., Jackson, A. P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C. D., Hamel, B. C. J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J. B. P., Tolmie, J. L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H. G., Woods, C. G.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287108/
https://ncbi.nlm.nih.gov/pubmed/10827106
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