Dr. Stuart Turvey and the Turvey lab are committed to improving child health through research. Our research transforms lives. There is urgency to what we do! We are based at UBC and BC Children's Hospital, Vancouver, Canada. 🇨🇦 https://turveylab.com/
Stojcic et al. provide the first comprehensive description of the clinical phenotype and outcomes of all known patients w/ the heterozygous IRF4 p.T95R variant, analyzing 10 affected individuals and identifying shared clinical features, treatment responses & outcomes:
rupress.org/jhi/article/...
