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

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

BackgroundMutations 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 t...

Descripció completa

Dades bibliogràfiques
Autors principals: Wen-Rong Ge, Pei-Pei Fu, Wei-Na Zhang, Bo Zhang, Ying-Xue Ding, Guang Yang
Format: Article
Idioma:English
Publicat: Frontiers Media S.A. 2023-04-01
Col·lecció:Frontiers in Neurology
Matèries:
DYNC1H1 gene
malformations of cortical development
variant
microtubule-binding domain
case report
Accés en línia:https://www.frontiersin.org/articles/10.3389/fneur.2023.1163803/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1163803/full

Ítems similars