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De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations

BACKGROUND: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. METHODS: The clinical characteristics and...

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Detalles Bibliográficos
Autores principales:	Su, Tangfeng, Yan, Yu, Hu, Qingqing, Liu, Yan, Xu, Sanqing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922968/ https://www.ncbi.nlm.nih.gov/pubmed/35099838 http://dx.doi.org/10.1002/mgg3.1874

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