Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review
This report expands the NEXMIF mutational spectrum and underscores the critical role of genetic testing in achieving early diagnosis and informed reproductive counseling for families affected by this disorder.
Authors
- Xuezhe Ouyang
- Qian Yang (ORCID: https://orcid.org/0000-0001-7159-9389)
- Yaming Liu
- Ling Liu
- Jing Guo
- Yali Li
- Yuanhang Zhu
- Fangying Cui
- Naiqi Li
Institutions
- Third Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-02-06
- DOI
- https://doi.org/10.3389/fmed.2026.1757682
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00