Publications by authors named "Katerina N Oikonomaki"
Clin Exp Rheumatol
December 2014
Article Synopsis
- Hereditary periodic fever syndromes (HPFS) are rare genetic diseases that cause repeated bouts of fever and inflammation due to specific genetic defects.
- A study conducted on adult patients in Athens identified common mutations, such as E148Q in the MEFV gene, and discovered other significant variants linked to different syndromes.
- Genetic testing in clinical settings can enhance understanding of these syndromes' clinical features, geographic prevalence, and genetic factors across various age groups.
