Synopsis of recent research by authors named "Seda Cakmaklı"
- Seda Cakmaklı's research primarily focuses on genetic disorders and their clinical manifestations, particularly in relation to rare conditions like iron-refractory iron deficiency anemia (IRIDA) and Vanishing White Matter (VWM) disease.
- Significant findings include the identification of novel mutations in genes such as TMPRSS6 associated with IRIDA, and a comprehensive analysis of clinical and neuroimaging features in patients with VWM, underscoring the variability of symptoms in genetic conditions.
- Cakmaklı also explores distinct cases, such as Van der Woude syndrome and FATCO syndrome, contributing to the understanding of the pathogenic mechanisms and phenotypic presentations of these syndromes, highlighting the need for more research into their etiologies.
