Загрузка...
Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum
Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two a...
Сохранить в:
| Опубликовано в: : | Cerebellum Ataxias |
|---|---|
| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2014
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4552392/ https://ncbi.nlm.nih.gov/pubmed/26331032 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2053-8871-1-8 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|