[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

  title={[Clinical and genetic analysis of a family with Aicardi-Gouti{\`e}res syndrome and literature review].},
  author={Tao-yun Ji and Jingmin Wang and Huijuan Li and Lirong Zhao and Yan-mei Sang and Ye Wu},
  journal={Zhonghua er ke za zhi = Chinese journal of pediatrics},
  volume={52 11},
  • T. Ji, Jingmin Wang, +3 authors Ye Wu
  • Published 1 November 2014
  • Medicine
  • Zhonghua er ke za zhi = Chinese journal of pediatrics
OBJECTIVE Aicardi-Goutières syndrome (AGS) is a rare early-onset genetic encephalopathy. The aim of this study was to explore the clinical, imaging and genetic features of a family with AGS, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare disease in China. We summarized the characteristics of AGS through reviewing related references. METHOD Information of the proband and other family members as well as their DNA samples were collected. All… 
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Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
This is the largest molecularly confirmed Aicardi-Goutières syndrome cohort from Arabia and it is hoped that these clinical and molecular findings will raise awareness of the disorder and demonstrate the importance of specialist referral and molecular diagnosis.