Collaboration with Face2Gene on creating a mask to recognize TARP syndrome:
Contact: Colleen Carlston, PhD Email: colleen.carlston@ucsf.edu.
Determination of the frequency of manifestations and natural history through a less selected sample:
colleen.carlston@ucsf.edu, john.carey@hsc.utah.edu
Functional studies of patient fibroblasts with variants in RBM10:
Contact: Christina Fagerberg, MD Email: christina.fagerberg@rsyd.dk.