Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report
This is the first reported case of female monozygotic twins with the CIH variants representing cardiac, cerebrovascular, and renal manifestations suggestive of Fabry disease.
Authors
- Soo Wan Kim (ORCID: https://orcid.org/0000-0002-3540-9004)
- Sung Sun Kim (ORCID: https://orcid.org/0000-0002-8569-2178)
- Seong‐Ryul Kwon (ORCID: https://orcid.org/0000-0003-1262-2790)
- Eun Hui Bae (ORCID: https://orcid.org/0000-0003-1727-2822)
- Chang Seong Kim (ORCID: https://orcid.org/0000-0001-8753-7641)
- Jae Yeong Cho (ORCID: https://orcid.org/0000-0002-9393-2821)
- Hong Sang Choi (ORCID: https://orcid.org/0000-0001-8191-4071)
- Oh Il Kwon
Institutions
- Chonnam National University (KR)
- Chonnam National University Hospital (KR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-10-07
- DOI
- https://doi.org/10.1186/s12920-024-02021-3
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Sanofi
- National Research Foundation
- Chonnam National University