Genotype-phenotype correlation studies indicated distinct phenotypes associated with different disease-causing mechanisms. However, only a small number of patients with PRR12 mutations have been reported. Thus, additional patients are needed to better characterize phenotypes for each type of mutations.
The overall aims of our research are:
• to identify additional patients with mutations in PRR12
• 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 PRR12 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.
PRR12