Research collaboration

We seek to delineate the full phenotypic spectrum of this syndrome and potential genotype/phenotype correlation by soliciting additional molecularly confirmed cases.

If you have clinical data, genetic test results or interest in participating in collaborative research on SPEG-related disease, please contact the lead moderator Pankaj Agrawal (pagrawal@miami.edu) or co-moderator Tzofia Drori (tnd35@miami.edu).