Below, we have summarized research articles about changes in the CHAMP1 gene. We hope you find this information helpful.
The information available about CHAMP1 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.
De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability
Original research article by B. Isidor et al. (2016).
Read the abstract here and read the Simons Searchlight summary here.
De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment
Original research article by M. Hempel et al. (2015).
Read the article here and read the Simons Searchlight summary here.