Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report
Aicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene (NM_...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2021-10-01
|
| Series: | Reviews in Clinical Medicine |
| Subjects: | |
| Online Access: | https://rcm.mums.ac.ir/article_19664_eb0de6b0f266be97d767a4f32e84b763.pdf |