Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – case report
This is a case of KLEFS2 with longitudinal 10 year follow up and its previously unreported multi-organ clinical manifestations including stroke-like episodes and nephrotic disease. Our report further expands the phenotypic spectrum of KLEFS2. Further reports of patients with KLEFS2 with multi-organ involvement should be sought to confirm our findings.
Authors
- Alwin Hwai Liang Loh (ORCID: https://orcid.org/0000-0003-3852-040X)
- Yan Rong Yong
- Ru Sin Lim
- Jia Liang Kwek (ORCID: https://orcid.org/0000-0001-8161-1679)
- Jing Xian Teo (ORCID: https://orcid.org/0000-0002-5083-1852)
- Weng Khong Lim (ORCID: https://orcid.org/0000-0003-4391-1130)
- Zhiyong Chen (ORCID: https://orcid.org/0000-0002-3086-8631)
- Karine Su Shan Tay
- Peng Soon Ng
Institutions
- SingHealth (SG)
- Singapore General Hospital (SG)
- Changi General Hospital (SG)
- Tan Tock Seng Hospital (SG)
- Duke-NUS Medical School (SG)
Publication Details
- Journal
- BMC Neurology
- Published
- 2025-05-06
- DOI
- https://doi.org/10.1186/s12883-025-04210-8
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Duke-NUS Medical School
- SingHealth
- Precision Health Research, Singapore