Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research
This study expands our understanding of <i>MED27</i> gene variants and their associated clinical phenotypes. Additionally, it contributes to the investigation of the potential pathogenesis of NEDSCAC caused by <i>MED27</i> gene variants.
Authors
- Yan Dong (ORCID: https://orcid.org/0000-0001-6171-1891)
- Tianming Jia
- Liang Jin (ORCID: https://orcid.org/0000-0002-7552-7849)
- Ruirui Liang (ORCID: https://orcid.org/0000-0002-0663-507X)
- Ling Gan (ORCID: https://orcid.org/0000-0001-8228-2782)
- Ruofei Lian
- Lijun Wang (ORCID: https://orcid.org/0000-0001-5773-3422)
- Shichao Zhao (ORCID: https://orcid.org/0000-0002-0282-6071)
- Gongao Wu
- Mengchun Li
Institutions
- Third Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Heliyon
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e37258
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10