Genetic & Genomic MedicineJCI InsightPeer-reviewed
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.
Naama Elefant, Pinelopi Nikolopoulou, V Vassiliki Papadaki…·Vassiliki Kostourou
The paper identifies a rare TLN1 splice-site variant in a familial SCLS case, linking Talin1 dysfunction to systemic capillary leak syndrome through disrupted endothelial barrier integrity.
4 citations