Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
Background Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses...
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| Altri autori: | , , , , , , , , , , |
| Natura: | article |
| Lingua: | inglese |
| Pubblicazione: |
2024
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| Soggetti: | |
| Accesso online: | https://hdl.handle.net/20.500.12381/4062 |
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