Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernandez B, Gener B, Fawcett KA, Gjergja-Juraski R, Pilz DT, Fry AE

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal  Features.

Am J Hum Genet 103:786-793 (2018)
DOI:10.1016/j.ajhg.2018.09.012