Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Titel:
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Auteur:
Turnpenny, Peter D. Wright, Michael J. Sloman, Melissa Caswell, Richard van Essen, Anthony J. Gerkes, Erica Pfundt, Rolph White, Susan M. Shaul-Lotan, Nava Carpenter, Lori Schaefer, G. Bradley Fryer, Alan Innes, A. Micheil Forbes, Kirsten P. Chung, Wendy K. McLaughlin, Heather Henderson, Lindsay B. Roberts, Amy E. Heath, Karen E. Paumard-Hernández, Beatriz Gener, Blanca Fawcett, Katherine A. Gjergja-Juraški, Romana Pilz, Daniela T. Fry, Andrew E.