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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. Although...

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Pubblicato in:Eur J Hum Genet
Autori principali: Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, Dita, Vyleťal, Petr, Sovová, Jana, Cossette, Patrick, Andermann, Eva, Andermann, Frederick, Kmoch, Stanislav
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7253421/
https://ncbi.nlm.nih.gov/pubmed/31919451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0567-2
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