Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening
The findings highlight the increased risk of genetic disorders like CD59 deficiency in populations with frequent consanguineous marriages. The study underscores the importance of genetic counseling and preventive measures in such communities to mitigate the risk of congenital disorders.
Authors
- Şefika İlknur Kökçü Karadağ (ORCID: https://orcid.org/0000-0001-9234-633X)
- Karadağ Alpaslan Medine
- Karadağ Hüseyin
- Uğurtay Eda Turgut
- Can Cansu
- Yildiran Alisan
Institutions
- Ondokuz Mayıs University (TR)
- Samsun University (TR)
- Medical Genetics Center (DE)
Publication Details
- Journal
- Journal of Pediatric Hematology/Oncology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1097/mph.0000000000003008
- Citations
- 2
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.59