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...

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Hlavní autoři: Wen-Rong Ge, Pei-Pei Fu, Wei-Na Zhang, Bo Zhang, Ying-Xue Ding, Guang Yang
Médium: Článek
Jazyk:English
Vydáno: Frontiers Media S.A. 2023-04-01
Edice:Frontiers in Neurology
Témata:
DYNC1H1 gene
malformations of cortical development
variant
microtubule-binding domain
case report
On-line přístup:https://www.frontiersin.org/articles/10.3389/fneur.2023.1163803/full

Internet

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

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