Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy
Objective: Various symptoms, including microcephaly, corpus callosum agenesis, cerebellar atrophy, spasticity, and epilepsy, are associated with variations in the TRAPPC12 gene. This diversity of features contributes to a broad range of mortality and morbidity. Identifying variations with functional...
Shranjeno v:
| Principais autores: | , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Istanbul University Press
2025-04-01
|
| Serija: | Experimed |
| Teme: | |
| Online dostop: | https://dergipark.org.tr/en/download/article-file/4364382 |
| Oznake: |
Brez oznak, prvi označite!
|