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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Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
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Article
Accés en línia: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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