[Genetic and clinical analysis of two children with microcephaly and mental retardation due to a frameshifting variant of CASK gene].
The de novo variants of the CASK gene probably underlay the pathogenesis of mental retardation and microcephaly in both children.
Authors
- Taocheng Zhou
- Sujuan Liu (ORCID: https://orcid.org/0009-0000-2587-5987)
- Ye Jiang (ORCID: https://orcid.org/0000-0003-2195-4092)
- Ping Xu
- Houyan Huang
- Yingying Wang (ORCID: https://orcid.org/0000-0002-3659-6139)
Institutions
- Anhui University of Traditional Chinese Medicine (CN)
- Anhui Provincial Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230620-00376
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00