Ontology highlight
ABSTRACT:
SUBMITTER: Crow YJ
PROVIDER: S-EPMC1287108 | biostudies-literature | 2000 Jul
REPOSITORIES: biostudies-literature
American journal of human genetics 20000525 1
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 abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of ...[more]