Giant Axonal Neuropathy in a Child with Stop-Gain Variant in GAN Gene
Background: Giant axonal neuropathy (GAN) type 1 is a rare autosomal recessive, progressive neuro-degenerative disorder, caused by biallelic variants in Gigaxonin (GAN) gene. Clinical Description: An 11-year-old boy born out of consanguineous marriage presented with features of regression of milesto...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ipcares.ipcares_241_24 |
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