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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Detalles Bibliográficos
Autores principales: Nicolaou, Paschalis, Tanteles, George A., Votsi, Christina, Zamba-Papanicolaou, Eleni, Papacostas, Savvas S., Christodoulou, Kyproula, Christou, Yiolanda-Panayiota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640139/
https://www.ncbi.nlm.nih.gov/pubmed/34868216
http://dx.doi.org/10.3389/fgene.2021.746101

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