Below, we have summarized research articles about changes in the HIVEP2 gene. We hope you find this information helpful.
The information available about HIVEP2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features
Original research article by H. Steinfield et al. (2016).
Read the article here and the Simons Searchlight summary here.
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Original research article by S. Srivastava et al. (2016).
Read the abstract here and the Simons Searchlight summary here.