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.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CTBP1 articles can be found here.
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.