Welcome
This website provides information on patients with mutations in the POLA1 gene, including clinical data, molecular data, management and research options.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the POLA1 gene.
Choose page:
- POLA1 X-linked reticulate pigmentary disorder (XLPDR) causal variant
- POLA1Van Esch-O'Driscoll Syndrome (VEODS) loss of function mutations
Clinicals who identify a patient with a mutation in POLA1 are invited to submit clinical and molecular information to the database.
Ezra Burstein, MD, PhD, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, United States, Ezra.Burstein@UTSouthwestern.edu
Andrew Zinn, MD, PhD, McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, Texas, United States, Andrew.Zinn@utsouthwestern.edu