טוען...
A report of Joubert syndrome in an infant, with literature review
Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenot...
שמור ב:
| Main Authors: | , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Medknow Publications
2011
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3173915/ https://ncbi.nlm.nih.gov/pubmed/21977088 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.84407 |
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