The research team from the GAD lab is still pursuing its work to better characterize the clinical and genetic spectrum of ARFGEF1 patients. To that end we are recruiting individuals carrying ARFGEF1 pathogenic or likely pathogenic variants that may require further analyses.
This study should allow a better understanding of the overall clinical spectrum of ARFGEF1-related disorders, of the natural history of patients, the possible severity of their disease, alongside with their radiological and molecular characteristics. Identification of additional patients should also allow to confirm that haploinsufficiency is the genetic mechanism underlying the disorder, in term facilitating diagnosis for future patients.
ARFGEF1