Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

BACKGROUND: Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of la...

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Detalles Bibliográficos
Autores principales: Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D., Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K., Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066917/
https://www.ncbi.nlm.nih.gov/pubmed/35505348
http://dx.doi.org/10.1186/s13023-022-02288-8

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