Although we have collected clinical data of patients with a SOX6 variant, the full clinical spectrum of these mutations is still not completely known.
The overall aims of our research are:
• to identify additional patients with mutations in SOX6.
• to characterize the clinical spectrum.
For the clinical studies we request (1) clinical and genetic information and/or (2) photographs to obtain a better insight into the clinical variability of SOX6 mutations.
Clinicians can submit clinical data directly into the database.
Instructions for the clinician involved:
Please request written consent for the use and storage of medical information with or without photographs.