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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Autores principales: Paschalis Nicolaou, George A. Tanteles, Christina Votsi, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Kyproula Christodoulou, Yiolanda-Panayiota Christou
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
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Acceso en línea:https://doaj.org/article/9f5a586d1e804025bf4fed141a7ffc56
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