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Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea

Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this p...

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Detalles Bibliográficos
Autores principales:	Kulikowska, Joanna, Jakubiuk-Tomaszuk, Anna, Rydzanicz, Małgorzata, Płoski, Rafał, Kochanowicz, Jan, Kulakowska, Alina, Kapica-Topczewska, Katarzyna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932026/ https://www.ncbi.nlm.nih.gov/pubmed/36816046 http://dx.doi.org/10.3389/fgene.2023.1107460

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