Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings
Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic Resonance Imaging (MRI) as molar tooth sign. The pres...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2023-06-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/18046/63675_CE[Ra1]_F(IS)_PF1(AS_SS)_PFA_NC(KM)_PN(KM).pdf |