Loading...
Joubert Syndrome with Variable Features: Presentation of Two Cases
Joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea,...
Na minha lista:
| Main Authors: | , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Shahid Beheshti University of Medical Sciences
2013
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3943034/ https://ncbi.nlm.nih.gov/pubmed/24665296 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|