J.TCW and K.J.B. designed, performed, and analyzed the experiments, with technical support provided by A.N.A. D.L.L. and U.R. identified and recruited the family and initiated the collaboration to perform hiPSC-based modeling of this mutation; A.J.S. performed the skin biopsies. C.M.B.C., B.Y., S.G., J.R.L., S.M., D.M., and J.S. genotyped the carriers. K.J.B., J.TCW, D.L.L., C.M.B.C., and J.R.L. wrote the manuscript. All authors have reviewed the manuscript and are in agreement with the content.
