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_024...
Na minha lista:
| Principais autores: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Mashhad University of Medical Sciences
2021-10-01
|
| coleção: | Reviews in Clinical Medicine |
| Assuntos: | |
| Acesso em linha: | https://rcm.mums.ac.ir/article_19664_eb0de6b0f266be97d767a4f32e84b763.pdf |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|