A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report.
Hossein EsmaeilzadehMohammad Reza BordbarHassan DastsoozMohammad SilawiMohammad Ali Farazi FardAli AdibAli KafashanZahra TabatabaeiForough SadeghipourMohammad Ali Farazi FardPublished in: BMC medical genetics (2018)
Our study found a novel, splice-site mutation in WAS gene and help consider the genetic counselling more precisely for families with clinical phenotypes of both Wiskott-Aldrich syndrome and inflammatory bowel disease and may suggest linked pathways between these two diseases.