Research collaboration

Although we have collected clinical data of a substantial number of ARID1B patients (± 140), the full clinical spectrum of these mutations is still not completely known. Reasons for this are ascertainment bias, the variability among patients and the young age of the patients included. This is especially important to keep in mind for patients in which mutations are identified at a very young age.

The overall aims of our research are:

• to identify additional patients with mutations in ARID1B
• 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 ARID1B 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.