A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report
The heterozygous Cys43Tyr mutation in exon 2 of NOTCH3 is rare. Thus, our case report complements the rare mutation of exon 2 and offers additional clinical data for CADASIL patients.
Authors
- Minli Yan (ORCID: https://orcid.org/0000-0002-8460-0569)
- Lulu Liu (ORCID: https://orcid.org/0000-0002-3086-2686)
- Jiawei Guo (ORCID: https://orcid.org/0000-0002-1787-1780)
Institutions
- Zhejiang Chinese Medical University (CN)
- Third People 's Hospital of Liaoyang (CN)
- First Affiliated Hospital of Henan University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1097/md.0000000000040107
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00