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...
| Main Authors: | , , , , , |
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| 格式: | Article |
| 語言: | English |
| 出版: |
Frontiers Media S.A.
2023-04-01
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| 叢編: | Frontiers in Neurology |
| 主題: | |
| 在線閱讀: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1163803/full |