PPP3CA

Research collaboration

Genotype-phenotype correlation studies indicated distinct phenotypes associated with different disease-causing mechanisms. However, only a small number of patients with PPP3CA variants have been reported. Thus, additional patients are needed to better characterize phenotypes for each type of variant.

The overall aims of our research are:

• To identify additional patients with variants in PPP3CA
• To characterize the phenotypic spectrum

For the clinical studies we request (1) clinical and genetic information and/or (2) photographs showing dysmorphic features. Such information is used to obtain a better insight into the phenotypic variability of PPP3CA variants.

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.