Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review

BACKGROUND: Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of DYNC1H1 and review...

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Detalles Bibliográficos
Autores principales: Ge, Wen-Rong, Fu, Pei-Pei, Zhang, Wei-Na, Zhang, Bo, Ding, Ying-Xue, Yang, Guang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167015/
https://www.ncbi.nlm.nih.gov/pubmed/37181555
http://dx.doi.org/10.3389/fneur.2023.1163803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167015/
https://www.ncbi.nlm.nih.gov/pubmed/37181555
http://dx.doi.org/10.3389/fneur.2023.1163803

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