Below, we have summarized research articles about changes in the CTBP1 gene. We hope you find this information helpful.
The information available about CTBP1 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.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects
Original research article by D.B. Beck et al. (2016).
Read the abstract here and the Simons Searchlight summary here.