The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities
Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
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| Series: | Brain Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S266645932500006X |
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