Identification of biallelic mutations in MCM3AP and comprehensive literature analysis
Our findings further expand the genetic mutation spectrum of biallelic <i>MCM3AP</i> and highlight the genotype-phenotype associations. Additionally, we elaborate on the importance of rehabilitation intervention.
Authors
- Kaiyi Zhao
- Chan Liu (ORCID: https://orcid.org/0000-0003-2211-8213)
- Bingwu Xiang
- Feixia Zheng
- Quan Hu (ORCID: https://orcid.org/0000-0002-0295-3820)
- Qingfeng Xie (ORCID: https://orcid.org/0000-0002-9942-3083)
- Xiang Chen (ORCID: https://orcid.org/0000-0002-4504-8732)
Institutions
- Wenzhou Medical University (CN)
- Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-08-20
- DOI
- https://doi.org/10.3389/fgene.2024.1405644
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55