A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision, seizures, and premature death. To date, pathog...
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| Main Authors: | , , , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/9f5a586d1e804025bf4fed141a7ffc56 |
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